Linked Data
ClinVar Variation Id:
593660
dbSNP Id:
rs200916353
ExAC:
9:134398376 G / A
gnomAD v2:
9-134398376-G-A
gnomAD v3:
9-131522989-G-A
gnomAD v4:
9-131522989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522989G>A , CM000671.2:g.131522989G>A | GRCh38 |
| NC_000009.11:g.134398376G>A , CM000671.1:g.134398376G>A | GRCh37 |
| NC_000009.10:g.133388197G>A | NCBI36 |
| NG_008896.1:g.25088G>A | |
| NG_008896.2:g.25088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1899G>A | ENSP00000343034.7:p.Ala633= | |
| ENST00000404875.7:n.2601G>A | ||
| ENST00000423007.6:c.2118G>A | ENSP00000404119.2:p.Ala706= | |
| ENST00000677295.2:c.*2405G>A | ENSP00000504346.2:n.*2405G>A | |
| ENST00000678264.2:c.*2244G>A | ENSP00000503157.2:n.*2244G>A | |
| ENST00000682070.1:n.2371G>A | ||
| ENST00000682639.1:c.58G>A | ||
| ENST00000682813.1:n.2458G>A | ||
| ENST00000683231.1:c.58G>A | ||
| ENST00000683392.1:n.4653G>A | ||
| ENST00000683712.1:n.2466G>A | ||
| ENST00000683900.1:n.3961G>A | ||
| ENST00000684062.1:n.2727G>A | ||
| ENST00000684399.1:c.58G>A | ||
| ENST00000684579.1:n.3907G>A | ||
| ENST00000341012.12:c.1899G>A | ENSP00000343034.7:p.Ala633= | |
| ENST00000372220.5:c.930G>A | ENSP00000361294.5:p.Ala310= | |
| ENST00000372228.9:c.2127G>A | ENSP00000361302.3:p.Ala709= | |
| ENST00000402686.8:c.2061G>A MANE Select | ENSP00000385797.4:p.Ala687= | |
| ENST00000676640.1:c.2061G>A | ENSP00000503281.1:p.Ala687= | |
| ENST00000676803.1:c.1122G>A | ENSP00000503093.1:p.Ala374= | |
| ENST00000676835.1:c.*1276G>A | ENSP00000502911.1:n.*1276G>A | |
| ENST00000677029.1:c.1605G>A | ENSP00000502936.1:p.Ala535= | |
| ENST00000677099.1:c.*1771G>A | ENSP00000504553.1:n.*1771G>A | |
| ENST00000677216.1:c.1710G>A | ENSP00000503772.1:p.Ala570= | |
| ENST00000677221.1:n.1086G>A | ||
| ENST00000677295.1:c.*1283G>A | ENSP00000504346.1:n.*1283G>A | |
| ENST00000677444.1:c.2006G>A | ||
| ENST00000677586.1:n.1428G>A | ||
| ENST00000677626.1:c.1710G>A | ENSP00000503552.1:p.Ala570= | |
| ENST00000677853.1:c.*1069G>A | ENSP00000503488.1:n.*1069G>A | |
| ENST00000678264.1:c.*1438G>A | ENSP00000503157.1:n.*1438G>A | |
| ENST00000678303.1:c.1971G>A | ENSP00000503696.1:p.Ala657= | |
| ENST00000678366.1:c.*2310G>A | ENSP00000504353.1:n.*2310G>A | |
| ENST00000678546.1:c.*2006G>A | ENSP00000503062.1:n.*2006G>A | |
| ENST00000678548.1:c.*2200G>A | ENSP00000503934.1:n.*2200G>A | |
| ENST00000678626.1:n.1897G>A | ||
| ENST00000678739.1:c.*2227G>A | ENSP00000503806.1:n.*2227G>A | |
| ENST00000678833.1:c.*1813G>A | ENSP00000503893.1:n.*1813G>A | |
| ENST00000679023.1:c.1899G>A | ENSP00000503718.1:p.Ala633= | |
| ENST00000679076.1:c.1680G>A | ||
| ENST00000679111.1:c.*817G>A | ENSP00000504257.1:n.*817G>A | |
| ENST00000679189.1:c.1710G>A | ENSP00000503356.1:p.Ala570= | |
| ENST00000341012.11:c.1899G>A | ENSP00000343034.7:p.Ala633= | |
| ENST00000372220.4:c.924G>A | ENSP00000361294.4:p.Ala308= | |
| ENST00000372228.7:c.2127G>A | ENSP00000361302.3:p.Ala709= | |
| ENST00000402686.7:c.2061G>A | ENSP00000385797.3:p.Ala687= | |
| ENST00000404875.6:c.1710G>A | ENSP00000384531.2:p.Ala570= | |
| ENST00000423007.5:c.2061G>A | ENSP00000404119.1:p.Ala687= | |
| ENST00000485278.5:n.2611G>A | ||
| NM_001077365.1:c.2061G>A | NP_001070833.1:p.Ala687= | |
| NM_001077366.1:c.1899G>A | NP_001070834.1:p.Ala633= | |
| NM_001136113.1:c.2061G>A | NP_001129585.1:p.Ala687= | |
| NM_001136114.1:c.1710G>A | NP_001129586.1:p.Ala570= | |
| NM_007171.3:c.2127G>A | NP_009102.3:p.Ala709= | |
| XM_005272156.1:c.2127G>A | XP_005272213.1:p.Ala709= | |
| XM_005272158.1:c.1965G>A | XP_005272215.1:p.Ala655= | |
| XM_005272159.1:c.1776G>A | XP_005272216.1:p.Ala592= | |
| XM_005272162.1:c.930G>A | XP_005272219.1:p.Ala310= | |
| XM_006716932.1:c.1776G>A | XP_006716995.1:p.Ala592= | |
| XM_011518140.1:c.1980G>A | XP_011516442.1:p.Ala660= | |
| XM_011518141.1:c.1914G>A | XP_011516443.1:p.Ala638= | |
| XM_011518142.1:c.1818G>A | XP_011516444.1:p.Ala606= | |
| XM_011518143.1:c.1812G>A | XP_011516445.1:p.Ala604= | |
| XM_011518145.1:c.1671G>A | XP_011516447.1:p.Ala557= | |
| XM_011518147.1:c.999G>A | XP_011516449.1:p.Ala333= | |
| XR_929703.1:n.2303G>A | ||
| NM_001353193.1:c.2127G>A | NP_001340122.1:p.Ala709= | |
| NM_001353194.1:c.1899G>A | NP_001340123.1:p.Ala633= | |
| NM_001353195.1:c.1710G>A | NP_001340124.1:p.Ala570= | |
| NM_001353196.1:c.1971G>A | NP_001340125.1:p.Ala657= | |
| NM_001353197.1:c.1965G>A | NP_001340126.1:p.Ala655= | |
| NM_001353198.1:c.1965G>A | NP_001340127.1:p.Ala655= | |
| NM_001353199.1:c.1776G>A | NP_001340128.1:p.Ala592= | |
| NM_001353200.1:c.1605G>A | NP_001340129.1:p.Ala535= | |
| NR_148391.1:n.2111G>A | ||
| NR_148392.1:n.2329G>A | ||
| NR_148393.1:n.2250G>A | ||
| NR_148394.1:n.2004G>A | ||
| NR_148395.1:n.2402G>A | ||
| NR_148396.1:n.2036G>A | ||
| NR_148397.1:n.2161G>A | ||
| NR_148398.1:n.2116G>A | ||
| NR_148399.1:n.2642G>A | ||
| NR_148400.1:n.2241G>A | ||
| XM_005272162.3:c.930G>A | XP_005272219.1:p.Ala310= | |
| XM_006716932.2:c.1776G>A | XP_006716995.1:p.Ala592= | |
| XM_011518140.2:c.1980G>A | XP_011516442.1:p.Ala660= | |
| XM_011518141.2:c.1914G>A | XP_011516443.1:p.Ala638= | |
| XM_011518142.2:c.1818G>A | XP_011516444.1:p.Ala606= | |
| XM_011518143.2:c.1812G>A | XP_011516445.1:p.Ala604= | |
| XM_011518145.2:c.1671G>A | XP_011516447.1:p.Ala557= | |
| XM_017014205.2:c.930G>A | XP_016869694.1:p.Ala310= | |
| XM_024447380.1:c.930G>A | XP_024303148.1:p.Ala310= | |
| XM_024447381.1:c.1236G>A | XP_024303149.1:p.Ala412= | |
| XM_024447382.1:c.930G>A | XP_024303150.1:p.Ala310= | |
| XR_001746160.2:n.2231G>A | ||
| XR_001746162.2:n.2436G>A | ||
| XR_001746164.1:n.2153G>A | ||
| XR_001746166.2:n.2448G>A | ||
| NM_001077365.2:c.2061G>A MANE Select | NP_001070833.1:p.Ala687= | |
| NM_001077366.2:c.1899G>A | NP_001070834.1:p.Ala633= | |
| NM_001136113.2:c.2061G>A | NP_001129585.1:p.Ala687= | |
| NM_001136114.2:c.1710G>A | NP_001129586.1:p.Ala570= | |
| NM_001353193.2:c.2127G>A | NP_001340122.2:p.Ala709= | |
| NM_001353194.2:c.1899G>A | NP_001340123.1:p.Ala633= | |
| NM_001353195.2:c.1710G>A | NP_001340124.1:p.Ala570= | |
| NM_001353196.2:c.1971G>A | NP_001340125.1:p.Ala657= | |
| NM_001353197.2:c.1965G>A | NP_001340126.2:p.Ala655= | |
| NM_001353198.2:c.1965G>A | NP_001340127.2:p.Ala655= | |
| NM_001353199.2:c.1776G>A | NP_001340128.2:p.Ala592= | |
| NM_001353200.2:c.1605G>A | NP_001340129.1:p.Ala535= | |
| NM_001374689.1:c.2049G>A | NP_001361618.1:p.Ala683= | |
| NM_001374690.1:c.1842G>A | NP_001361619.1:p.Ala614= | |
| NM_001374691.1:c.1710G>A | NP_001361620.1:p.Ala570= | |
| NM_001374692.1:c.1710G>A | NP_001361621.1:p.Ala570= | |
| NM_001374693.1:c.1710G>A | NP_001361622.1:p.Ala570= | |
| NM_001374695.1:c.1671G>A | NP_001361624.1:p.Ala557= | |
| NM_007171.4:c.2127G>A | NP_009102.4:p.Ala709= | |
| NR_148391.2:n.2095G>A | ||
| NR_148392.2:n.2313G>A | ||
| NR_148393.2:n.2234G>A | ||
| NR_148394.2:n.1988G>A | ||
| NR_148395.2:n.2386G>A | ||
| NR_148396.2:n.2020G>A | ||
| NR_148397.2:n.2145G>A | ||
| NR_148398.2:n.2100G>A | ||
| NR_148399.2:n.2626G>A | ||
| NR_148400.2:n.2225G>A |