Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800101G>A , CM000666.2:g.24800101G>A | GRCh38 |
| NC_000004.11:g.24801723G>A , CM000666.1:g.24801723G>A | GRCh37 |
| NC_000004.10:g.24410821G>A | NCBI36 |
| NG_012213.1:g.9639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.580G>A MANE Select | ENSP00000371554.3:p.Ala194Thr | |
| ENST00000382120.3:c.580G>A | ENSP00000371554.3:p.Ala194Thr | |
| NM_003102.2:c.580G>A | NP_003093.2:p.Ala194Thr | |
| XR_427488.1:n.770G>A | ||
| NM_003102.3:c.580G>A | NP_003093.2:p.Ala194Thr | |
| NM_003102.4:c.580G>A MANE Select | NP_003093.2:p.Ala194Thr |