Linked Data
ClinVar Variation Id:
95462
dbSNP Id:
rs76092524
ExAC:
9:134398430 G / A
gnomAD v2:
9-134398430-G-A
gnomAD v3:
9-131523043-G-A
gnomAD v4:
9-131523043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523043G>A , CM000671.2:g.131523043G>A | GRCh38 |
| NC_000009.11:g.134398430G>A , CM000671.1:g.134398430G>A | GRCh37 |
| NC_000009.10:g.133388251G>A | NCBI36 |
| NG_008896.1:g.25142G>A | |
| NG_008896.2:g.25142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1953G>A | ENSP00000343034.7:p.Ser651= | |
| ENST00000404875.7:n.2655G>A | ||
| ENST00000423007.6:c.2172G>A | ENSP00000404119.2:p.Ser724= | |
| ENST00000677295.2:c.*2459G>A | ENSP00000504346.2:n.*2459G>A | |
| ENST00000678264.2:c.*2298G>A | ENSP00000503157.2:n.*2298G>A | |
| ENST00000682070.1:n.2425G>A | ||
| ENST00000682639.1:c.112G>A | ||
| ENST00000682813.1:n.2512G>A | ||
| ENST00000683231.1:c.112G>A | ||
| ENST00000683392.1:n.4707G>A | ||
| ENST00000683712.1:n.2520G>A | ||
| ENST00000683900.1:n.4015G>A | ||
| ENST00000684062.1:n.2781G>A | ||
| ENST00000684399.1:c.112G>A | ||
| ENST00000684579.1:n.3961G>A | ||
| ENST00000341012.12:c.1953G>A | ENSP00000343034.7:p.Ser651= | |
| ENST00000372220.5:c.984G>A | ENSP00000361294.5:p.Ser328= | |
| ENST00000372228.9:c.2181G>A | ENSP00000361302.3:p.Ser727= | |
| ENST00000402686.8:c.2115G>A MANE Select | ENSP00000385797.4:p.Ser705= | |
| ENST00000676640.1:c.2115G>A | ENSP00000503281.1:p.Ser705= | |
| ENST00000676803.1:c.1176G>A | ENSP00000503093.1:p.Ser392= | |
| ENST00000676835.1:c.*1330G>A | ENSP00000502911.1:n.*1330G>A | |
| ENST00000677029.1:c.1659G>A | ENSP00000502936.1:p.Ser553= | |
| ENST00000677099.1:c.*1825G>A | ENSP00000504553.1:n.*1825G>A | |
| ENST00000677216.1:c.1764G>A | ENSP00000503772.1:p.Ser588= | |
| ENST00000677295.1:c.*1337G>A | ENSP00000504346.1:n.*1337G>A | |
| ENST00000677444.1:c.2060G>A | ||
| ENST00000677586.1:n.1482G>A | ||
| ENST00000677626.1:c.1764G>A | ENSP00000503552.1:p.Ser588= | |
| ENST00000677853.1:c.*1123G>A | ENSP00000503488.1:n.*1123G>A | |
| ENST00000678264.1:c.*1492G>A | ENSP00000503157.1:n.*1492G>A | |
| ENST00000678303.1:c.2025G>A | ENSP00000503696.1:p.Ser675= | |
| ENST00000678366.1:c.*2364G>A | ENSP00000504353.1:n.*2364G>A | |
| ENST00000678546.1:c.*2060G>A | ENSP00000503062.1:n.*2060G>A | |
| ENST00000678548.1:c.*2254G>A | ENSP00000503934.1:n.*2254G>A | |
| ENST00000678626.1:n.1951G>A | ||
| ENST00000678739.1:c.*2281G>A | ENSP00000503806.1:n.*2281G>A | |
| ENST00000678833.1:c.*1867G>A | ENSP00000503893.1:n.*1867G>A | |
| ENST00000679023.1:c.1953G>A | ENSP00000503718.1:p.Ser651= | |
| ENST00000679076.1:c.1734G>A | ||
| ENST00000679111.1:c.*871G>A | ENSP00000504257.1:n.*871G>A | |
| ENST00000679189.1:c.1764G>A | ENSP00000503356.1:p.Ser588= | |
| ENST00000341012.11:c.1953G>A | ENSP00000343034.7:p.Ser651= | |
| ENST00000372220.4:c.978G>A | ENSP00000361294.4:p.Ser326= | |
| ENST00000372228.7:c.2181G>A | ENSP00000361302.3:p.Ser727= | |
| ENST00000402686.7:c.2115G>A | ENSP00000385797.3:p.Ser705= | |
| ENST00000404875.6:c.1764G>A | ENSP00000384531.2:p.Ser588= | |
| ENST00000423007.5:c.2115G>A | ENSP00000404119.1:p.Ser705= | |
| ENST00000485278.5:n.2665G>A | ||
| NM_001077365.1:c.2115G>A | NP_001070833.1:p.Ser705= | |
| NM_001077366.1:c.1953G>A | NP_001070834.1:p.Ser651= | |
| NM_001136113.1:c.2115G>A | NP_001129585.1:p.Ser705= | |
| NM_001136114.1:c.1764G>A | NP_001129586.1:p.Ser588= | |
| NM_007171.3:c.2181G>A | NP_009102.3:p.Ser727= | |
| XM_005272156.1:c.2181G>A | XP_005272213.1:p.Ser727= | |
| XM_005272158.1:c.2019G>A | XP_005272215.1:p.Ser673= | |
| XM_005272159.1:c.1830G>A | XP_005272216.1:p.Ser610= | |
| XM_005272162.1:c.984G>A | XP_005272219.1:p.Ser328= | |
| XM_006716932.1:c.1830G>A | XP_006716995.1:p.Ser610= | |
| XM_011518140.1:c.2034G>A | XP_011516442.1:p.Ser678= | |
| XM_011518141.1:c.1968G>A | XP_011516443.1:p.Ser656= | |
| XM_011518142.1:c.1872G>A | XP_011516444.1:p.Ser624= | |
| XM_011518143.1:c.1866G>A | XP_011516445.1:p.Ser622= | |
| XM_011518145.1:c.1725G>A | XP_011516447.1:p.Ser575= | |
| XM_011518147.1:c.1053G>A | XP_011516449.1:p.Ser351= | |
| XR_929703.1:n.2357G>A | ||
| NM_001353193.1:c.2181G>A | NP_001340122.1:p.Ser727= | |
| NM_001353194.1:c.1953G>A | NP_001340123.1:p.Ser651= | |
| NM_001353195.1:c.1764G>A | NP_001340124.1:p.Ser588= | |
| NM_001353196.1:c.2025G>A | NP_001340125.1:p.Ser675= | |
| NM_001353197.1:c.2019G>A | NP_001340126.1:p.Ser673= | |
| NM_001353198.1:c.2019G>A | NP_001340127.1:p.Ser673= | |
| NM_001353199.1:c.1830G>A | NP_001340128.1:p.Ser610= | |
| NM_001353200.1:c.1659G>A | NP_001340129.1:p.Ser553= | |
| NR_148391.1:n.2165G>A | ||
| NR_148392.1:n.2383G>A | ||
| NR_148393.1:n.2304G>A | ||
| NR_148394.1:n.2058G>A | ||
| NR_148395.1:n.2456G>A | ||
| NR_148396.1:n.2090G>A | ||
| NR_148397.1:n.2215G>A | ||
| NR_148398.1:n.2170G>A | ||
| NR_148399.1:n.2696G>A | ||
| NR_148400.1:n.2295G>A | ||
| XM_005272162.3:c.984G>A | XP_005272219.1:p.Ser328= | |
| XM_006716932.2:c.1830G>A | XP_006716995.1:p.Ser610= | |
| XM_011518140.2:c.2034G>A | XP_011516442.1:p.Ser678= | |
| XM_011518141.2:c.1968G>A | XP_011516443.1:p.Ser656= | |
| XM_011518142.2:c.1872G>A | XP_011516444.1:p.Ser624= | |
| XM_011518143.2:c.1866G>A | XP_011516445.1:p.Ser622= | |
| XM_011518145.2:c.1725G>A | XP_011516447.1:p.Ser575= | |
| XM_017014205.2:c.984G>A | XP_016869694.1:p.Ser328= | |
| XM_024447380.1:c.984G>A | XP_024303148.1:p.Ser328= | |
| XM_024447381.1:c.1290G>A | XP_024303149.1:p.Ser430= | |
| XM_024447382.1:c.984G>A | XP_024303150.1:p.Ser328= | |
| XR_001746160.2:n.2285G>A | ||
| XR_001746162.2:n.2490G>A | ||
| XR_001746164.1:n.2207G>A | ||
| XR_001746166.2:n.2502G>A | ||
| NM_001077365.2:c.2115G>A MANE Select | NP_001070833.1:p.Ser705= | |
| NM_001077366.2:c.1953G>A | NP_001070834.1:p.Ser651= | |
| NM_001136113.2:c.2115G>A | NP_001129585.1:p.Ser705= | |
| NM_001136114.2:c.1764G>A | NP_001129586.1:p.Ser588= | |
| NM_001353193.2:c.2181G>A | NP_001340122.2:p.Ser727= | |
| NM_001353194.2:c.1953G>A | NP_001340123.1:p.Ser651= | |
| NM_001353195.2:c.1764G>A | NP_001340124.1:p.Ser588= | |
| NM_001353196.2:c.2025G>A | NP_001340125.1:p.Ser675= | |
| NM_001353197.2:c.2019G>A | NP_001340126.2:p.Ser673= | |
| NM_001353198.2:c.2019G>A | NP_001340127.2:p.Ser673= | |
| NM_001353199.2:c.1830G>A | NP_001340128.2:p.Ser610= | |
| NM_001353200.2:c.1659G>A | NP_001340129.1:p.Ser553= | |
| NM_001374689.1:c.2103G>A | NP_001361618.1:p.Ser701= | |
| NM_001374690.1:c.1896G>A | NP_001361619.1:p.Ser632= | |
| NM_001374691.1:c.1764G>A | NP_001361620.1:p.Ser588= | |
| NM_001374692.1:c.1764G>A | NP_001361621.1:p.Ser588= | |
| NM_001374693.1:c.1764G>A | NP_001361622.1:p.Ser588= | |
| NM_001374695.1:c.1725G>A | NP_001361624.1:p.Ser575= | |
| NM_007171.4:c.2181G>A | NP_009102.4:p.Ser727= | |
| NR_148391.2:n.2149G>A | ||
| NR_148392.2:n.2367G>A | ||
| NR_148393.2:n.2288G>A | ||
| NR_148394.2:n.2042G>A | ||
| NR_148395.2:n.2440G>A | ||
| NR_148396.2:n.2074G>A | ||
| NR_148397.2:n.2199G>A | ||
| NR_148398.2:n.2154G>A | ||
| NR_148399.2:n.2680G>A | ||
| NR_148400.2:n.2279G>A |