Linked Data
ClinVar Variation Id:
1423237
ClinVar RCV Id:
RCV001928693
dbSNP Id:
rs1249681027
gnomAD v2:
5-131726527-C-T
gnomAD v3:
5-132390835-C-T
gnomAD v4:
5-132390835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390835C>T , CM000667.2:g.132390835C>T | GRCh38 |
| NC_000005.9:g.131726527C>T , CM000667.1:g.131726527C>T | GRCh37 |
| NC_000005.8:g.131754426C>T | NCBI36 |
| NG_008982.1:g.26127C>T | |
| NG_008982.2:g.26132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1039C>T | ENSP00000388838.2:p.Arg347Cys | |
| ENST00000435065.7:c.1270C>T | ENSP00000402760.2:p.Arg424Cys | |
| ENST00000448810.6:c.*50C>T | ENSP00000401860.2:n.*50C>T | |
| ENST00000685543.1:n.1339C>T | ||
| ENST00000686757.1:c.*362C>T | ENSP00000510721.1:n.*362C>T | |
| ENST00000687740.1:n.3883C>T | ||
| ENST00000688151.1:n.2508C>T | ||
| ENST00000689271.1:c.1045C>T | ENSP00000510797.1:p.Arg349Cys | |
| ENST00000690900.1:c.*362C>T | ENSP00000510703.1:n.*362C>T | |
| ENST00000692212.1:n.2810C>T | ||
| ENST00000692355.1:c.451C>T | ||
| ENST00000692413.1:c.1180C>T | ENSP00000509374.1:p.Arg394Cys | |
| ENST00000692825.1:c.1266C>T | ENSP00000509447.1:n.1266C>T | |
| ENST00000693308.1:c.1246C>T | ENSP00000509770.1:p.Arg416Cys | |
| ENST00000693763.1:n.2358C>T | ||
| ENST00000245407.8:c.1198C>T MANE Select | ENSP00000245407.3:p.Arg400Cys | |
| ENST00000245407.7:c.1198C>T | ENSP00000245407.3:p.Arg400Cys | |
| ENST00000435065.6:c.1270C>T | ENSP00000402760.2:p.Arg424Cys | |
| ENST00000447841.5:c.112-1598C>T | ||
| ENST00000448810.5:c.460C>T | ||
| ENST00000461013.5:n.8620C>T | ||
| ENST00000475308.1:n.1876C>T | ||
| ENST00000479605.5:n.301C>T | ||
| NM_001308122.1:c.1270C>T | NP_001295051.1:p.Arg424Cys | |
| NM_003060.3:c.1198C>T | NP_003051.1:p.Arg400Cys | |
| XM_011543590.1:c.580C>T | XP_011541892.1:p.Arg194Cys | |
| XR_427718.1:n.1558C>T | ||
| XR_948290.1:n.1394-1598C>T | ||
| XR_948291.1:n.1552C>T | ||
| XM_011543590.2:c.580C>T | XP_011541892.1:p.Arg194Cys | |
| XM_017009778.2:c.670C>T | XP_016865267.1:p.Arg224Cys | |
| XR_001742215.1:n.1453C>T | ||
| XR_001742216.1:n.1472C>T | ||
| XR_427718.2:n.1558C>T | ||
| XR_948290.2:n.1394-1598C>T | ||
| XR_948291.2:n.1552C>T | ||
| NM_003060.4:c.1198C>T MANE Select | NP_003051.1:p.Arg400Cys | |
| NM_001308122.2:c.1270C>T | NP_001295051.1:p.Arg424Cys |