Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8081169T>A , CM000679.2:g.8081169T>A | GRCh38 |
| NC_000017.10:g.7984487T>A , CM000679.1:g.7984487T>A | GRCh37 |
| NC_000017.9:g.7925212T>A | NCBI36 |
| NG_007099.1:g.11535A>T | |
| NG_007099.2:g.11548A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.371A>T MANE Select | NP_001130.1:p.Asp124Val |
| ENST00000647874.1:c.371A>T MANE Select | ENSP00000497784.1:p.Asp124Val |
| NM_001139.2:c.371A>T | NP_001130.1:p.Asp124Val |
| ENST00000319144.4:c.371A>T | ENSP00000315167.4:p.Asp124Val |
| XR_001752778.1:n.1398T>A |