Linked Data
ClinVar Variation Id:
2129550
ClinVar RCV Id:
RCV003040593
dbSNP Id:
rs1336605220
gnomAD v2:
10-104436678-G-A
gnomAD v4:
10-102676921-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102676921G>A , CM000672.2:g.102676921G>A | GRCh38 |
| NC_000010.10:g.104436678G>A , CM000672.1:g.104436678G>A | GRCh37 |
| NC_000010.9:g.104426668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.522C>T MANE Select | ENSP00000260746.4:p.Cys174= | |
| ENST00000260746.5:c.522C>T | ENSP00000260746.4:p.Cys174= | |
| NM_004311.3:c.522C>T | NP_004302.1:p.Cys174= | |
| XM_017016260.1:c.522C>T | XP_016871749.1:p.Cys174= | |
| NM_004311.4:c.522C>T MANE Select | NP_004302.1:p.Cys174= |