Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192222A>T , CM000681.2:g.15192222A>T | GRCh38 |
| NC_000019.9:g.15303033A>T , CM000681.1:g.15303033A>T | GRCh37 |
| NC_000019.8:g.15164033A>T | NCBI36 |
| NG_009819.1:g.13760T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.417T>A MANE Select | ENSP00000263388.1:p.Asp139Glu | |
| ENST00000263388.6:c.417T>A | ENSP00000263388.1:p.Asp139Glu | |
| ENST00000601011.1:c.414T>A | ENSP00000473138.1:p.Asp138Glu | |
| NM_000435.2:c.417T>A | NP_000426.2:p.Asp139Glu | |
| XM_005259924.3:c.417T>A | XP_005259981.1:p.Asp139Glu | |
| XM_005259924.4:c.417T>A | XP_005259981.1:p.Asp139Glu | |
| NM_000435.3:c.417T>A MANE Select | NP_000426.2:p.Asp139Glu |