Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.26139977G>A , CM000685.2:g.26139977G>A | GRCh38 |
| NC_000023.10:g.26158094G>A , CM000685.1:g.26158094G>A | GRCh37 |
| NC_000023.9:g.26068015G>A | NCBI36 |
| NG_016370.1:g.6635G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173699.4:c.992G>A MANE Select | NP_775970.2:p.Arg331His |
| ENST00000325250.2:c.992G>A MANE Select | ENSP00000314543.1:p.Arg331His |
| NM_173699.3:c.992G>A | NP_775970.1:p.Arg331His |
| ENST00000325250.1:c.992G>A | ENSP00000314543.1:p.Arg331His |