Linked Data
dbSNP Id:
rs749167944
ExAC:
10:30602864 A / G
gnomAD v2:
10-30602864-A-G
gnomAD v3:
10-30313935-A-G
gnomAD v4:
10-30313935-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313935A>G , CM000672.2:g.30313935A>G | GRCh38 |
| NC_000010.10:g.30602864A>G , CM000672.1:g.30602864A>G | GRCh37 |
| NC_000010.9:g.30642870A>G | NCBI36 |
| NG_028096.1:g.40404T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1423T>C MANE Select | ENSP00000263063.3:p.Tyr475His | |
| ENST00000263063.8:c.1423T>C | ENSP00000263063.3:p.Tyr475His | |
| ENST00000488290.5:n.3178T>C | ||
| NM_018109.3:c.1423T>C | NP_060579.3:p.Tyr475His | |
| NM_018109.4:c.1423T>C MANE Select | NP_060579.3:p.Tyr475His |