Linked Data
dbSNP Id:
rs776583689
ExAC:
19:18900070 T / C
gnomAD v2:
19-18900070-T-C
gnomAD v3:
19-18789261-T-C
gnomAD v4:
19-18789261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789261T>C , CM000681.2:g.18789261T>C | GRCh38 |
| NC_000019.9:g.18900070T>C , CM000681.1:g.18900070T>C | GRCh37 |
| NC_000019.8:g.18761070T>C | NCBI36 |
| NG_007070.1:g.7045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.427A>G MANE Select | ENSP00000222271.2:p.Ile143Val | |
| ENST00000222271.6:c.427A>G | ENSP00000222271.2:p.Ile143Val | |
| ENST00000425807.1:c.391-369A>G | ENSP00000403792.1:n.391-369A>G | |
| ENST00000542601.6:c.328A>G | ENSP00000439156.2:p.Ile110Val | |
| NM_000095.2:c.427A>G | NP_000086.2:p.Ile143Val | |
| NM_000095.3:c.427A>G MANE Select | NP_000086.2:p.Ile143Val |