Linked Data
ClinVar Variation Id:
263279
dbSNP Id:
rs77034126
ExAC:
15:57565432 C / T
gnomAD v2:
15-57565432-C-T
gnomAD v3:
15-57273234-C-T
gnomAD v4:
15-57273234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57273234C>T , CM000677.2:g.57273234C>T | GRCh38 |
| NC_000015.9:g.57565432C>T , CM000677.1:g.57565432C>T | GRCh37 |
| NC_000015.8:g.55352724C>T | NCBI36 |
| NG_033851.1:g.359600C>T | |
| NG_033851.2:g.360145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333725.10:c.1950C>T MANE Select | ENSP00000331057.6:p.Val650= | |
| ENST00000267811.9:c.1878C>T | ENSP00000267811.5:p.Val626= | |
| ENST00000333725.9:c.1950C>T | ENSP00000331057.5:p.Val650= | |
| ENST00000343827.7:c.1368C>T | ENSP00000342459.3:p.Val456= | |
| ENST00000438423.6:c.1950C>T | ENSP00000388940.2:p.Val650= | |
| ENST00000537840.5:c.1170C>T | ENSP00000444696.1:p.Val390= | |
| ENST00000543579.5:c.1440C>T | ENSP00000440017.1:p.Val480= | |
| ENST00000557843.5:c.1878C>T | ENSP00000453737.1:p.Val626= | |
| ENST00000559609.5:c.1938C>T | ENSP00000453876.1:p.Val646= | |
| ENST00000559703.1:c.849C>T | ENSP00000454102.1:p.Val283= | |
| ENST00000559710.5:c.780C>T | ENSP00000453264.1:p.Val260= | |
| ENST00000560190.5:n.607C>T | ||
| NM_001306219.1:c.1440C>T | NP_001293148.1:p.Val480= | |
| NM_001306220.1:c.1170C>T | NP_001293149.1:p.Val390= | |
| NM_003205.3:c.1878C>T | NP_003196.1:p.Val626= | |
| NM_207036.1:c.1950C>T | NP_996919.1:p.Val650= | |
| NM_207037.1:c.1950C>T | NP_996920.1:p.Val650= | |
| NM_207038.1:c.1878C>T | NP_996921.1:p.Val626= | |
| NM_207040.1:c.1368C>T | NP_996923.1:p.Val456= | |
| XM_005254613.3:c.1776C>T | XP_005254670.1:p.Val592= | |
| XM_011521959.1:c.1986C>T | XP_011520261.1:p.Val662= | |
| XM_011521960.1:c.1986C>T | XP_011520262.1:p.Val662= | |
| XM_011521961.1:c.1983C>T | XP_011520263.1:p.Val661= | |
| XM_011521962.1:c.1914C>T | XP_011520264.1:p.Val638= | |
| XM_011521963.1:c.1911C>T | XP_011520265.1:p.Val637= | |
| XM_011521965.1:c.1302C>T | XP_011520267.1:p.Val434= | |
| XM_011521966.1:c.1242C>T | XP_011520268.1:p.Val414= | |
| XM_011521967.1:c.1230C>T | XP_011520269.1:p.Val410= | |
| XM_011521969.1:c.1365C>T | XP_011520271.1:p.Val455= | |
| NM_001306219.2:c.1440C>T | NP_001293148.1:p.Val480= | |
| NM_001306220.2:c.1170C>T | NP_001293149.1:p.Val390= | |
| NM_001322151.1:c.1950C>T | NP_001309080.1:p.Val650= | |
| NM_001322152.1:c.1947C>T | NP_001309081.1:p.Val649= | |
| NM_001322154.1:c.1293C>T | NP_001309083.1:p.Val431= | |
| NM_001322156.1:c.1776C>T | NP_001309085.1:p.Val592= | |
| NM_001322157.1:c.1878C>T | NP_001309086.1:p.Val626= | |
| NM_001322158.1:c.1704C>T | NP_001309087.1:p.Val568= | |
| NM_001322159.1:c.1950C>T | NP_001309088.1:p.Val650= | |
| NM_001322161.1:c.1947C>T | NP_001309090.1:p.Val649= | |
| NM_001322162.1:c.1950C>T | NP_001309091.1:p.Val650= | |
| NM_001322164.1:c.1914C>T | NP_001309093.1:p.Val638= | |
| NM_001322165.1:c.1878C>T | NP_001309094.1:p.Val626= | |
| XM_011521959.3:c.1986C>T | XP_011520261.1:p.Val662= | |
| XM_011521960.3:c.1986C>T | XP_011520262.1:p.Val662= | |
| XM_011521961.3:c.1983C>T | XP_011520263.1:p.Val661= | |
| XM_011521962.3:c.1914C>T | XP_011520264.1:p.Val638= | |
| XM_011521963.3:c.1911C>T | XP_011520265.1:p.Val637= | |
| XM_011521965.2:c.1302C>T | XP_011520267.1:p.Val434= | |
| XM_011521966.2:c.1242C>T | XP_011520268.1:p.Val414= | |
| XM_011521967.2:c.1230C>T | XP_011520269.1:p.Val410= | |
| XM_017022520.2:c.1875C>T | XP_016878009.1:p.Val625= | |
| NM_001306219.3:c.1440C>T | NP_001293148.1:p.Val480= | |
| NM_001306220.3:c.1170C>T | NP_001293149.1:p.Val390= | |
| NM_001322152.2:c.1947C>T | NP_001309081.1:p.Val649= | |
| NM_001322154.2:c.1293C>T | NP_001309083.1:p.Val431= | |
| NM_001322156.2:c.1776C>T | NP_001309085.1:p.Val592= | |
| NM_001322157.2:c.1878C>T | NP_001309086.1:p.Val626= | |
| NM_001322158.2:c.1704C>T | NP_001309087.1:p.Val568= | |
| NM_001322159.2:c.1950C>T | NP_001309088.1:p.Val650= | |
| NM_001322161.2:c.1947C>T | NP_001309090.1:p.Val649= | |
| NM_001322162.2:c.1950C>T | NP_001309091.1:p.Val650= | |
| NM_001322164.2:c.1914C>T | NP_001309093.1:p.Val638= | |
| NM_001322165.2:c.1878C>T | NP_001309094.1:p.Val626= | |
| NM_003205.4:c.1878C>T | NP_003196.1:p.Val626= | |
| NM_207036.2:c.1950C>T | NP_996919.1:p.Val650= | |
| NM_207037.2:c.1950C>T MANE Select | NP_996920.1:p.Val650= | |
| NM_207038.2:c.1878C>T | NP_996921.1:p.Val626= | |
| NM_207040.2:c.1368C>T | NP_996923.1:p.Val456= | |
| NM_001322151.2:c.1950C>T | NP_001309080.1:p.Val650= | |
| NM_001322157.3:c.1878C>T | NP_001309086.1:p.Val626= | |
| NM_001322159.3:c.1950C>T | NP_001309088.1:p.Val650= |