Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199413A>T , CM000671.2:g.137199413A>T | GRCh38 |
| NC_000009.11:g.140093865A>T , CM000671.1:g.140093865A>T | GRCh37 |
| NC_000009.10:g.139213686A>T | NCBI36 |
| NG_027801.1:g.6299T>A | |
| NG_027801.2:g.9781T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1299T>A MANE Select | ENSP00000387100.4:p.Ala433= | |
| ENST00000333046.8:c.693T>A | ENSP00000327617.4:p.Ala231= | |
| ENST00000409012.4:c.1299T>A | ENSP00000387100.4:p.Ala433= | |
| ENST00000541945.1:n.90+4691T>A | ||
| NM_001128228.2:c.1299T>A | NP_001121700.2:p.Ala433= | |
| NM_001128228.3:c.1299T>A MANE Select | NP_001121700.2:p.Ala433= |