Linked Data
gnomAD v4:
19-18787543-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787543G>C , CM000681.2:g.18787543G>C | GRCh38 |
| NC_000019.9:g.18898352G>C , CM000681.1:g.18898352G>C | GRCh37 |
| NC_000019.8:g.18759352G>C | NCBI36 |
| NG_007070.1:g.8763C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1083C>G MANE Select | ENSP00000222271.2:p.Asp361Glu | |
| ENST00000222271.6:c.1083C>G | ENSP00000222271.2:p.Asp361Glu | |
| ENST00000425807.1:c.924C>G | ENSP00000403792.1:p.Asp308Glu | |
| ENST00000542601.6:c.984C>G | ENSP00000439156.2:p.Asp328Glu | |
| NM_000095.2:c.1083C>G | NP_000086.2:p.Asp361Glu | |
| NM_000095.3:c.1083C>G MANE Select | NP_000086.2:p.Asp361Glu |