Linked Data
gnomAD v4:
4-99420658-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420658C>A , CM000666.2:g.99420658C>A | GRCh38 |
| NC_000004.11:g.100341815C>A , CM000666.1:g.100341815C>A | GRCh37 |
| NC_000004.10:g.100560838C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.700G>T MANE Select | ENSP00000414254.2:p.Ala234Ser | |
| ENST00000209665.8:c.736G>T | ENSP00000209665.4:p.Ala246Ser | |
| ENST00000437033.6:c.700G>T | ENSP00000414254.2:p.Ala234Ser | |
| ENST00000476959.5:c.760G>T | ENSP00000420269.1:p.Ala254Ser | |
| ENST00000482593.5:c.529G>T | ENSP00000420613.1:p.Ala177Ser | |
| NM_000673.4:c.736G>T | NP_000664.2:p.Ala246Ser | |
| NM_001166504.1:c.760G>T | NP_001159976.1:p.Ala254Ser | |
| NM_000673.7:c.700G>T MANE Select | NP_000664.3:p.Ala234Ser | |
| NM_001166504.2:c.760G>T | NP_001159976.1:p.Ala254Ser |