Linked Data
dbSNP Id:
rs757745444
ExAC:
16:2328293 G / A
gnomAD v2:
16-2328293-G-A
gnomAD v4:
16-2278292-G-A
COSMIC:
COSM5730280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278292G>A , CM000678.2:g.2278292G>A | GRCh38 |
| NC_000016.9:g.2328293G>A , CM000678.1:g.2328293G>A | GRCh37 |
| NC_000016.8:g.2268294G>A | NCBI36 |
| NG_011790.1:g.67455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4714C>T MANE Select | ENSP00000301732.5:p.His1572Tyr | |
| ENST00000301732.9:c.4714C>T | ENSP00000301732.5:p.His1572Tyr | |
| ENST00000382381.7:c.4540C>T | ENSP00000371818.3:p.His1514Tyr | |
| NM_001089.2:c.4714C>T | NP_001080.2:p.His1572Tyr | |
| NM_001089.3:c.4714C>T MANE Select | NP_001080.2:p.His1572Tyr |