Linked Data
gnomAD v4:
19-18786093-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786093C>G , CM000681.2:g.18786093C>G | GRCh38 |
| NC_000019.9:g.18896903C>G , CM000681.1:g.18896903C>G | GRCh37 |
| NC_000019.8:g.18757903C>G | NCBI36 |
| NG_007070.1:g.10212G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1361G>C MANE Select | ENSP00000222271.2:p.Ser454Thr | |
| ENST00000222271.6:c.1361G>C | ENSP00000222271.2:p.Ser454Thr | |
| ENST00000425807.1:c.1202G>C | ENSP00000403792.1:p.Ser401Thr | |
| ENST00000542601.6:c.1262G>C | ENSP00000439156.2:p.Ser421Thr | |
| NM_000095.2:c.1361G>C | NP_000086.2:p.Ser454Thr | |
| NM_000095.3:c.1361G>C MANE Select | NP_000086.2:p.Ser454Thr |