Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46378148A>G , CM000664.2:g.46378148A>G | GRCh38 |
| NC_000002.11:g.46605287A>G , CM000664.1:g.46605287A>G | GRCh37 |
| NC_000002.10:g.46458791A>G | NCBI36 |
| NG_016000.1:g.85747A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.1443+61A>G MANE Select | NP_001421.2:n.1443+61A>G |
| ENST00000263734.5:c.1443+61A>G MANE Select | ENSP00000263734.3:n.1443+61A>G |
| NM_001430.4:c.1443+61A>G | NP_001421.2:n.1443+61A>G |
| ENST00000263734.4:c.1443+61A>G | ENSP00000263734.3:n.1443+61A>G |
| ENST00000483692.1:n.611+61A>G | |
| XM_011532698.1:c.1482+61A>G | XP_011531000.1:n.1482+61A>G |
| XM_011532698.2:c.1482+61A>G | XP_011531000.1:n.1482+61A>G |