Linked Data
dbSNP Id:
rs1445956947
gnomAD v2:
X-49957512-G-A
gnomAD v3:
X-50192861-G-A
gnomAD v4:
X-50192861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192861G>A , CM000685.2:g.50192861G>A | GRCh38 |
| NC_000023.10:g.49957512G>A , CM000685.1:g.49957512G>A | GRCh37 |
| NC_000023.9:g.49844252G>A | NCBI36 |
| NG_012552.1:g.13153C>T | |
| NG_012552.2:g.13153C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1852C>T MANE Select | ENSP00000351327.2:p.His618Tyr | |
| ENST00000358526.6:c.1852C>T | ENSP00000351327.2:p.His618Tyr | |
| ENST00000376064.7:c.1825C>T | ENSP00000365232.3:p.His609Tyr | |
| ENST00000481402.5:n.1964C>T | ||
| NM_003886.2:c.1852C>T | NP_003877.2:p.His618Tyr | |
| NM_139289.1:c.1825C>T | NP_647450.1:p.His609Tyr | |
| NM_003886.3:c.1852C>T MANE Select | NP_003877.2:p.His618Tyr | |
| NM_139289.2:c.1825C>T | NP_647450.1:p.His609Tyr |