Linked Data
dbSNP Id:
rs773863759
ExAC:
12:6128780 G / A
gnomAD v2:
12-6128780-G-A
gnomAD v3:
12-6019614-G-A
gnomAD v4:
12-6019614-G-A
COSMIC:
COSM3398972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019614G>A , CM000674.2:g.6019614G>A | GRCh38 |
| NC_000012.11:g.6128780G>A , CM000674.1:g.6128780G>A | GRCh37 |
| NC_000012.10:g.5999041G>A | NCBI36 |
| NG_009072.1:g.110057C>T | |
| NG_009072.2:g.110057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3804C>T MANE Select | ENSP00000261405.5:p.His1268= | |
| ENST00000261405.9:c.3804C>T | ENSP00000261405.5:p.His1268= | |
| ENST00000538635.5:n.421-25680C>T | ||
| ENST00000539641.1:n.602C>T | ||
| NM_000552.3:c.3804C>T | NP_000543.2:p.His1268= | |
| NM_000552.4:c.3804C>T | NP_000543.2:p.His1268= | |
| NM_000552.5:c.3804C>T MANE Select | NP_000543.3:p.His1268= |