Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128947907A>G , CM000671.2:g.128947907A>G | GRCh38 |
| NC_000009.11:g.131710186A>G , CM000671.1:g.131710186A>G | GRCh37 |
| NC_000009.10:g.130750007A>G | NCBI36 |
| NG_017009.1:g.4827T>C , LRG_744:g.4827T>C | |
| NG_033111.1:g.5215A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015354.3:c.32+156A>G MANE Select | NP_056169.1:n.32+156A>G |
| ENST00000372577.2:c.32+156A>G MANE Select | ENSP00000361658.2:n.32+156A>G |
| NM_015354.2:c.32+156A>G | NP_056169.1:n.32+156A>G |
| ENST00000482796.1:c.39-1282A>G | ENSP00000417556.2:n.39-1282A>G |
| ENST00000491990.5:n.45+156A>G |