Linked Data
ClinVar Variation Id:
102756
dbSNP Id:
rs1801147
ExAC:
12:103249011 G / A
gnomAD v2:
12-103249011-G-A
gnomAD v3:
12-102855233-G-A
gnomAD v4:
12-102855233-G-A
ERepo:
CA229649/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855233G>A , CM000674.2:g.102855233G>A | GRCh38 |
| NC_000012.11:g.103249011G>A , CM000674.1:g.103249011G>A | GRCh37 |
| NC_000012.10:g.101773141G>A | NCBI36 |
| NG_008690.1:g.67370C>T | |
| NG_008690.2:g.108178C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.609C>T MANE Select | ENSP00000448059.1:p.Cys203= | |
| ENST00000307000.7:c.594C>T | ENSP00000303500.2:p.Cys198= | |
| ENST00000549111.5:n.705C>T | ||
| ENST00000553106.5:c.609C>T | ENSP00000448059.1:p.Cys203= | |
| NM_000277.1:c.609C>T | NP_000268.1:p.Cys203= | |
| XM_011538422.1:c.609C>T | XP_011536724.1:p.Cys203= | |
| NM_000277.2:c.609C>T | NP_000268.1:p.Cys203= | |
| NM_001354304.1:c.609C>T | NP_001341233.1:p.Cys203= | |
| XM_017019370.2:c.609C>T | XP_016874859.1:p.Cys203= | |
| NM_000277.3:c.609C>T MANE Select | NP_000268.1:p.Cys203= | |
| NM_001354304.2:c.609C>T | NP_001341233.1:p.Cys203= |