Linked Data
dbSNP Id:
rs751670994
gnomAD v2:
19-15302782-G-T
gnomAD v3:
19-15191971-G-T
gnomAD v4:
19-15191971-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191971G>T , CM000681.2:g.15191971G>T | GRCh38 |
| NC_000019.9:g.15302782G>T , CM000681.1:g.15302782G>T | GRCh37 |
| NC_000019.8:g.15163782G>T | NCBI36 |
| NG_009819.1:g.14011C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.668C>A MANE Select | ENSP00000263388.1:p.Ala223Asp | |
| ENST00000263388.6:c.668C>A | ENSP00000263388.1:p.Ala223Asp | |
| ENST00000601011.1:c.665C>A | ENSP00000473138.1:p.Ala222Asp | |
| NM_000435.2:c.668C>A | NP_000426.2:p.Ala223Asp | |
| XM_005259924.3:c.668C>A | XP_005259981.1:p.Ala223Asp | |
| XM_005259924.4:c.668C>A | XP_005259981.1:p.Ala223Asp | |
| NM_000435.3:c.668C>A MANE Select | NP_000426.2:p.Ala223Asp |