Linked Data
dbSNP Id:
rs917977726
gnomAD v2:
8-23049347-C-T
gnomAD v3:
8-23191834-C-T
gnomAD v4:
8-23191834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191834C>T , CM000670.2:g.23191834C>T | GRCh38 |
| NC_000008.10:g.23049347C>T , CM000670.1:g.23049347C>T | GRCh37 |
| NC_000008.9:g.23105292C>T | NCBI36 |
| NG_032107.1:g.38334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1267G>A MANE Select | ENSP00000221132.3:p.Ala423Thr | |
| ENST00000221132.7:c.1267G>A | ENSP00000221132.3:p.Ala423Thr | |
| ENST00000519862.1:n.322G>A | ||
| ENST00000613472.1:c.793G>A | ENSP00000480778.1:p.Ala265Thr | |
| NM_003844.3:c.1267G>A | NP_003835.3:p.Ala423Thr | |
| NM_003844.4:c.1267G>A MANE Select | NP_003835.3:p.Ala423Thr |