Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024076T>A , CM000663.2:g.17024076T>A | GRCh38 |
| NC_000001.10:g.17350571T>A , CM000663.1:g.17350571T>A | GRCh37 |
| NC_000001.9:g.17223158T>A | NCBI36 |
| NG_012340.1:g.35095A>T , LRG_316:g.35095A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.541-2A>T MANE Select | NP_002991.2:n.541-2A>T |
| ENST00000375499.8:c.541-2A>T MANE Select | ENSP00000364649.3:n.541-2A>T |
| NM_003000.2:c.541-2A>T , LRG_316t1:c.541-2A>T | NP_002991.2:n.541-2A>T |
| ENST00000375499.7:c.541-2A>T | ENSP00000364649.3:n.541-2A>T |
| ENST00000463045.3:c.370-2A>T | ENSP00000481376.2:n.370-2A>T |
| ENST00000485515.5:n.475-2A>T | |
| ENST00000491274.5:c.499-2A>T | ENSP00000480482.1:n.499-2A>T |
| ENST00000491274.6:c.499-2A>T | ENSP00000480482.2:n.499-2A>T |