Linked Data
ClinVar Variation Id:
30700
dbSNP Id:
rs374514431
ExAC:
2:69627594 C / A
gnomAD v2:
2-69627594-C-A
gnomAD v3:
2-69400462-C-A
gnomAD v4:
2-69400462-C-A
PubMed:
PMID:22077971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69400462C>A , CM000664.2:g.69400462C>A | GRCh38 |
| NC_000002.11:g.69627594C>A , CM000664.1:g.69627594C>A | GRCh37 |
| NC_000002.10:g.69481098C>A | NCBI36 |
| NG_031931.1:g.42167G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410022.7:c.622G>T MANE Select | ENSP00000387219.3:p.Gly208Cys | |
| ENST00000303698.7:c.550G>T | ENSP00000306965.3:p.Gly184Cys | |
| ENST00000394305.5:c.199G>T | ENSP00000377842.1:p.Gly67Cys | |
| ENST00000410022.6:c.622G>T | ENSP00000387219.2:p.Gly208Cys | |
| ENST00000450796.6:c.199G>T | ENSP00000415102.2:p.Gly67Cys | |
| ENST00000462320.5:c.199G>T | ENSP00000418598.1:p.Gly67Cys | |
| ENST00000471185.5:n.423-4172G>T | ||
| ENST00000474230.5:c.253G>T | ENSP00000418882.1:p.Gly85Cys | |
| ENST00000484177.5:c.199G>T | ENSP00000417693.1:p.Gly67Cys | |
| NM_001002755.2:c.622G>T | NP_001002755.1:p.Gly208Cys | |
| NM_001002756.2:c.199G>T | NP_001002756.1:p.Gly67Cys | |
| NM_015700.3:c.550G>T | NP_056515.2:p.Gly184Cys | |
| NR_045631.1:n.692G>T | ||
| NR_045632.1:n.616-4172G>T | ||
| XM_017003808.2:c.550G>T | XP_016859297.1:p.Gly184Cys | |
| NM_001002755.4:c.622G>T MANE Select | NP_001002755.1:p.Gly208Cys | |
| NM_001374284.1:c.550G>T | NP_001361213.1:p.Gly184Cys | |
| NM_015700.4:c.550G>T | NP_056515.2:p.Gly184Cys | |
| NR_045631.2:n.499G>T | ||
| NR_045632.2:n.423-4172G>T |