Linked Data
dbSNP Id:
rs752966685
ExAC:
10:30602768 A / T
gnomAD v2:
10-30602768-A-T
gnomAD v4:
10-30313839-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313839A>T , CM000672.2:g.30313839A>T | GRCh38 |
| NC_000010.10:g.30602768A>T , CM000672.1:g.30602768A>T | GRCh37 |
| NC_000010.9:g.30642774A>T | NCBI36 |
| NG_028096.1:g.40500T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1519T>A MANE Select | ENSP00000263063.3:p.Trp507Arg | |
| ENST00000263063.8:c.1519T>A | ENSP00000263063.3:p.Trp507Arg | |
| ENST00000488290.5:n.3274T>A | ||
| NM_018109.3:c.1519T>A | NP_060579.3:p.Trp507Arg | |
| NM_018109.4:c.1519T>A MANE Select | NP_060579.3:p.Trp507Arg |