Linked Data
ClinVar Variation Id:
1105507
ClinVar RCV Id:
RCV001429891
dbSNP Id:
rs766107583
ExAC:
12:103237552 G / A
gnomAD v2:
12-103237552-G-A
gnomAD v4:
12-102843774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843774G>A , CM000674.2:g.102843774G>A | GRCh38 |
| NC_000012.11:g.103237552G>A , CM000674.1:g.103237552G>A | GRCh37 |
| NC_000012.10:g.101761682G>A | NCBI36 |
| NG_008690.1:g.78829C>T | |
| NG_008690.2:g.119637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1071C>T MANE Select | ENSP00000448059.1:p.Cys357= | |
| ENST00000307000.7:c.1056C>T | ENSP00000303500.2:p.Cys352= | |
| ENST00000549247.6:n.830C>T | ||
| ENST00000551114.2:n.733C>T | ||
| ENST00000553106.5:c.1071C>T | ENSP00000448059.1:p.Cys357= | |
| ENST00000635477.1:c.175C>T | ||
| ENST00000635528.1:n.586C>T | ||
| NM_000277.1:c.1071C>T | NP_000268.1:p.Cys357= | |
| XM_011538422.1:c.1014C>T | XP_011536724.1:p.Cys338= | |
| NM_000277.2:c.1071C>T | NP_000268.1:p.Cys357= | |
| NM_001354304.1:c.1071C>T | NP_001341233.1:p.Cys357= | |
| NM_000277.3:c.1071C>T MANE Select | NP_000268.1:p.Cys357= | |
| NM_001354304.2:c.1071C>T | NP_001341233.1:p.Cys357= |