Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.172101479C>T , CM000664.2:g.172101479C>T | GRCh38 |
| NC_000002.11:g.172966207C>T , CM000664.1:g.172966207C>T | GRCh37 |
| NC_000002.10:g.172674453C>T | NCBI36 |
| NG_009219.1:g.6272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234198.9:c.568G>A MANE Select | ENSP00000234198.4:p.Gly190Ser | |
| ENST00000234198.8:c.568G>A | ENSP00000234198.4:p.Gly190Ser | |
| ENST00000466293.2:c.568G>A | ENSP00000446904.1:p.Gly190Ser | |
| NM_004405.3:c.568G>A | NP_004396.1:p.Gly190Ser | |
| NM_004405.4:c.568G>A MANE Select | NP_004396.1:p.Gly190Ser |