Linked Data
dbSNP Id:
rs775435999
ExAC:
19:18898395 G / T
gnomAD v2:
19-18898395-G-T
gnomAD v4:
19-18787586-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787586G>T , CM000681.2:g.18787586G>T | GRCh38 |
| NC_000019.9:g.18898395G>T , CM000681.1:g.18898395G>T | GRCh37 |
| NC_000019.8:g.18759395G>T | NCBI36 |
| NG_007070.1:g.8720C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1040C>A MANE Select | ENSP00000222271.2:p.Ala347Glu | |
| ENST00000222271.6:c.1040C>A | ENSP00000222271.2:p.Ala347Glu | |
| ENST00000425807.1:c.881C>A | ENSP00000403792.1:p.Ala294Glu | |
| ENST00000542601.6:c.941C>A | ENSP00000439156.2:p.Ala314Glu | |
| NM_000095.2:c.1040C>A | NP_000086.2:p.Ala347Glu | |
| NM_000095.3:c.1040C>A MANE Select | NP_000086.2:p.Ala347Glu |