SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
dbSNP Id:
rs1588470938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518943A>C , CM000671.2:g.131518943A>C | GRCh38 |
| NC_000009.11:g.134394330A>C , CM000671.1:g.134394330A>C | GRCh37 |
| NC_000009.10:g.133384151A>C | NCBI36 |
| NG_008896.1:g.21042A>C | |
| NG_008896.2:g.21042A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1310A>C | ENSP00000343034.7:p.His437Pro | |
| ENST00000404875.7:n.2012A>C | ||
| ENST00000423007.6:c.1529A>C | ENSP00000404119.2:p.His510Pro | |
| ENST00000677295.2:c.*1816A>C | ENSP00000504346.2:n.*1816A>C | |
| ENST00000678264.2:c.*1655A>C | ENSP00000503157.2:n.*1655A>C | |
| ENST00000682070.1:n.1937A>C | ||
| ENST00000682539.1:c.410A>C | ||
| ENST00000682813.1:n.1876A>C | ||
| ENST00000683392.1:n.4219A>C | ||
| ENST00000683712.1:n.1877A>C | ||
| ENST00000683900.1:n.3372A>C | ||
| ENST00000684062.1:n.2138A>C | ||
| ENST00000684579.1:n.3318A>C | ||
| ENST00000684679.1:n.699A>C | ||
| ENST00000341012.12:c.1310A>C | ENSP00000343034.7:p.His437Pro | |
| ENST00000372220.5:c.341A>C | ENSP00000361294.5:p.His114Pro | |
| ENST00000372228.9:c.1538A>C | ENSP00000361302.3:p.His513Pro | |
| ENST00000402686.8:c.1472A>C MANE Select | ENSP00000385797.4:p.His491Pro | |
| ENST00000676640.1:c.1472A>C | ENSP00000503281.1:p.His491Pro | |
| ENST00000676803.1:c.647A>C | ENSP00000503093.1:p.His216Pro | |
| ENST00000676835.1:c.*687A>C | ENSP00000502911.1:n.*687A>C | |
| ENST00000677029.1:c.1016A>C | ENSP00000502936.1:p.His339Pro | |
| ENST00000677099.1:c.*1182A>C | ENSP00000504553.1:n.*1182A>C | |
| ENST00000677216.1:c.1121A>C | ENSP00000503772.1:p.His374Pro | |
| ENST00000677221.1:n.497A>C | ||
| ENST00000677295.1:c.*849A>C | ENSP00000504346.1:n.*849A>C | |
| ENST00000677444.1:c.1417A>C | ||
| ENST00000677586.1:n.953A>C | ||
| ENST00000677626.1:c.1121A>C | ENSP00000503552.1:p.His374Pro | |
| ENST00000677677.1:n.1432A>C | ||
| ENST00000677853.1:c.*480A>C | ENSP00000503488.1:n.*480A>C | |
| ENST00000678202.1:n.631A>C | ||
| ENST00000678264.1:c.*849A>C | ENSP00000503157.1:n.*849A>C | |
| ENST00000678303.1:c.1382A>C | ENSP00000503696.1:p.His461Pro | |
| ENST00000678366.1:c.*1721A>C | ENSP00000504353.1:n.*1721A>C | |
| ENST00000678546.1:c.*1417A>C | ENSP00000503062.1:n.*1417A>C | |
| ENST00000678548.1:c.*1544A>C | ENSP00000503934.1:n.*1544A>C | |
| ENST00000678626.1:n.1308A>C | ||
| ENST00000678733.1:c.553A>C | ||
| ENST00000678739.1:c.*1798A>C | ENSP00000503806.1:n.*1798A>C | |
| ENST00000678833.1:c.*919A>C | ENSP00000503893.1:n.*919A>C | |
| ENST00000679023.1:c.1310A>C | ENSP00000503718.1:p.His437Pro | |
| ENST00000679076.1:c.1091A>C | ||
| ENST00000679111.1:c.*228A>C | ENSP00000504257.1:n.*228A>C | |
| ENST00000679189.1:c.1121A>C | ENSP00000503356.1:p.His374Pro | |
| ENST00000341012.11:c.1310A>C | ENSP00000343034.7:p.His437Pro | |
| ENST00000372220.4:c.335A>C | ENSP00000361294.4:p.His112Pro | |
| ENST00000372228.7:c.1538A>C | ENSP00000361302.3:p.His513Pro | |
| ENST00000402686.7:c.1472A>C | ENSP00000385797.3:p.His491Pro | |
| ENST00000404875.6:c.1121A>C | ENSP00000384531.2:p.His374Pro | |
| ENST00000423007.5:c.1472A>C | ENSP00000404119.1:p.His491Pro | |
| ENST00000467848.1:n.176A>C | ||
| ENST00000485278.5:n.2027A>C | ||
| NM_001077365.1:c.1472A>C | NP_001070833.1:p.His491Pro | |
| NM_001077366.1:c.1310A>C | NP_001070834.1:p.His437Pro | |
| NM_001136113.1:c.1472A>C | NP_001129585.1:p.His491Pro | |
| NM_001136114.1:c.1121A>C | NP_001129586.1:p.His374Pro | |
| NM_007171.3:c.1538A>C | NP_009102.3:p.His513Pro | |
| XM_005272156.1:c.1538A>C | XP_005272213.1:p.His513Pro | |
| XM_005272158.1:c.1376A>C | XP_005272215.1:p.His459Pro | |
| XM_005272159.1:c.1187A>C | XP_005272216.1:p.His396Pro | |
| XM_005272162.1:c.341A>C | XP_005272219.1:p.His114Pro | |
| XM_006716932.1:c.1187A>C | XP_006716995.1:p.His396Pro | |
| XM_011518140.1:c.1391A>C | XP_011516442.1:p.His464Pro | |
| XM_011518141.1:c.1325A>C | XP_011516443.1:p.His442Pro | |
| XM_011518142.1:c.1229A>C | XP_011516444.1:p.His410Pro | |
| XM_011518143.1:c.1223A>C | XP_011516445.1:p.His408Pro | |
| XM_011518145.1:c.1082A>C | XP_011516447.1:p.His361Pro | |
| XM_011518147.1:c.410A>C | XP_011516449.1:p.His137Pro | |
| XR_929703.1:n.1714A>C | ||
| NM_001353193.1:c.1538A>C | NP_001340122.1:p.His513Pro | |
| NM_001353194.1:c.1310A>C | NP_001340123.1:p.His437Pro | |
| NM_001353195.1:c.1121A>C | NP_001340124.1:p.His374Pro | |
| NM_001353196.1:c.1382A>C | NP_001340125.1:p.His461Pro | |
| NM_001353197.1:c.1376A>C | NP_001340126.1:p.His459Pro | |
| NM_001353198.1:c.1376A>C | NP_001340127.1:p.His459Pro | |
| NM_001353199.1:c.1187A>C | NP_001340128.1:p.His396Pro | |
| NM_001353200.1:c.1016A>C | NP_001340129.1:p.His339Pro | |
| NR_148391.1:n.1522A>C | ||
| NR_148392.1:n.1740A>C | ||
| NR_148393.1:n.1661A>C | ||
| NR_148394.1:n.1415A>C | ||
| NR_148395.1:n.1813A>C | ||
| NR_148396.1:n.1447A>C | ||
| NR_148397.1:n.1572A>C | ||
| NR_148398.1:n.1527A>C | ||
| NR_148399.1:n.2053A>C | ||
| NR_148400.1:n.1652A>C | ||
| XM_005272162.3:c.341A>C | XP_005272219.1:p.His114Pro | |
| XM_006716932.2:c.1187A>C | XP_006716995.1:p.His396Pro | |
| XM_011518140.2:c.1391A>C | XP_011516442.1:p.His464Pro | |
| XM_011518141.2:c.1325A>C | XP_011516443.1:p.His442Pro | |
| XM_011518142.2:c.1229A>C | XP_011516444.1:p.His410Pro | |
| XM_011518143.2:c.1223A>C | XP_011516445.1:p.His408Pro | |
| XM_011518145.2:c.1082A>C | XP_011516447.1:p.His361Pro | |
| XM_017014205.2:c.341A>C | XP_016869694.1:p.His114Pro | |
| XM_024447380.1:c.341A>C | XP_024303148.1:p.His114Pro | |
| XM_024447381.1:c.647A>C | XP_024303149.1:p.His216Pro | |
| XM_024447382.1:c.341A>C | XP_024303150.1:p.His114Pro | |
| XR_001746160.2:n.1642A>C | ||
| XR_001746162.2:n.1847A>C | ||
| XR_001746164.1:n.1564A>C | ||
| XR_001746166.2:n.1859A>C | ||
| NM_001077365.2:c.1472A>C MANE Select | NP_001070833.1:p.His491Pro | |
| NM_001077366.2:c.1310A>C | NP_001070834.1:p.His437Pro | |
| NM_001136113.2:c.1472A>C | NP_001129585.1:p.His491Pro | |
| NM_001136114.2:c.1121A>C | NP_001129586.1:p.His374Pro | |
| NM_001353193.2:c.1538A>C | NP_001340122.2:p.His513Pro | |
| NM_001353194.2:c.1310A>C | NP_001340123.1:p.His437Pro | |
| NM_001353195.2:c.1121A>C | NP_001340124.1:p.His374Pro | |
| NM_001353196.2:c.1382A>C | NP_001340125.1:p.His461Pro | |
| NM_001353197.2:c.1376A>C | NP_001340126.2:p.His459Pro | |
| NM_001353198.2:c.1376A>C | NP_001340127.2:p.His459Pro | |
| NM_001353199.2:c.1187A>C | NP_001340128.2:p.His396Pro | |
| NM_001353200.2:c.1016A>C | NP_001340129.1:p.His339Pro | |
| NM_001374689.1:c.1460A>C | NP_001361618.1:p.His487Pro | |
| NM_001374690.1:c.1365+406A>C | NP_001361619.1:n.1365+406A>C | |
| NM_001374691.1:c.1121A>C | NP_001361620.1:p.His374Pro | |
| NM_001374692.1:c.1121A>C | NP_001361621.1:p.His374Pro | |
| NM_001374693.1:c.1121A>C | NP_001361622.1:p.His374Pro | |
| NM_001374695.1:c.1082A>C | NP_001361624.1:p.His361Pro | |
| NM_007171.4:c.1538A>C | NP_009102.4:p.His513Pro | |
| NR_148391.2:n.1506A>C | ||
| NR_148392.2:n.1724A>C | ||
| NR_148393.2:n.1645A>C | ||
| NR_148394.2:n.1399A>C | ||
| NR_148395.2:n.1797A>C | ||
| NR_148396.2:n.1431A>C | ||
| NR_148397.2:n.1556A>C | ||
| NR_148398.2:n.1511A>C | ||
| NR_148399.2:n.2037A>C | ||
| NR_148400.2:n.1636A>C |