Linked Data
ClinVar Variation Id:
100495
dbSNP Id:
rs61751305
ExAC:
12:6058989 C / T
gnomAD v2:
12-6058989-C-T
gnomAD v4:
12-5949823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5949823C>T , CM000674.2:g.5949823C>T | GRCh38 |
| NC_000012.11:g.6058989C>T , CM000674.1:g.6058989C>T | GRCh37 |
| NC_000012.10:g.5929250C>T | NCBI36 |
| NG_009072.1:g.179848G>A | |
| NG_009072.2:g.179848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8216G>A MANE Select | ENSP00000261405.5:p.Cys2739Tyr | |
| ENST00000261405.9:c.8216G>A | ENSP00000261405.5:p.Cys2739Tyr | |
| NM_000552.3:c.8216G>A | NP_000543.2:p.Cys2739Tyr | |
| NM_000552.4:c.8216G>A | NP_000543.2:p.Cys2739Tyr | |
| NM_000552.5:c.8216G>A MANE Select | NP_000543.3:p.Cys2739Tyr |