Linked Data
dbSNP Id:
rs751036767
ExAC:
19:18896777 T / C
gnomAD v2:
19-18896777-T-C
gnomAD v4:
19-18785967-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785967T>C , CM000681.2:g.18785967T>C | GRCh38 |
| NC_000019.9:g.18896777T>C , CM000681.1:g.18896777T>C | GRCh37 |
| NC_000019.8:g.18757777T>C | NCBI36 |
| NG_007070.1:g.10338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1487A>G MANE Select | ENSP00000222271.2:p.Asp496Gly | |
| ENST00000222271.6:c.1487A>G | ENSP00000222271.2:p.Asp496Gly | |
| ENST00000425807.1:c.1328A>G | ENSP00000403792.1:p.Asp443Gly | |
| ENST00000542601.6:c.1388A>G | ENSP00000439156.2:p.Asp463Gly | |
| NM_000095.2:c.1487A>G | NP_000086.2:p.Asp496Gly | |
| NM_000095.3:c.1487A>G MANE Select | NP_000086.2:p.Asp496Gly |