Linked Data
gnomAD v4:
19-4816774-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816774G>T , CM000681.2:g.4816774G>T | GRCh38 |
| NC_000019.9:g.4816786G>T , CM000681.1:g.4816786G>T | GRCh37 |
| NC_000019.8:g.4767786G>T | NCBI36 |
| NG_031998.1:g.19969C>A , LRG_358:g.19969C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1604C>A MANE Select | ENSP00000248244.4:p.Ala535Asp | |
| ENST00000248244.5:c.1604C>A | ENSP00000248244.4:p.Ala535Asp | |
| ENST00000621756.1:c.1187C>A | ENSP00000479467.1:p.Ala396Asp | |
| NM_182919.3:c.1604C>A , LRG_358t1:c.1604C>A | NP_891549.1:p.Ala535Asp | |
| NM_001385678.1:c.1562C>A | NP_001372607.1:p.Ala521Asp | |
| NM_001385679.1:c.1469C>A | NP_001372608.1:p.Ala490Asp | |
| NM_001385680.1:c.962C>A | NP_001372609.1:p.Ala321Asp | |
| NM_182919.4:c.1604C>A MANE Select | NP_891549.1:p.Ala535Asp |