Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350496T>C , CM000664.2:g.46350496T>C | GRCh38 |
| NC_000002.11:g.46577635T>C , CM000664.1:g.46577635T>C | GRCh37 |
| NC_000002.10:g.46431139T>C | NCBI36 |
| NG_016000.1:g.58095T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.217+3433T>C MANE Select | NP_001421.2:n.217+3433T>C |
| ENST00000263734.5:c.217+3433T>C MANE Select | ENSP00000263734.3:n.217+3433T>C |
| NM_001430.4:c.217+3433T>C | NP_001421.2:n.217+3433T>C |
| ENST00000263734.4:c.217+3433T>C | ENSP00000263734.3:n.217+3433T>C |
| ENST00000449347.5:c.217+3433T>C | ENSP00000406137.1:n.217+3433T>C |
| ENST00000475822.1:n.408+3433T>C | |
| XM_011532698.1:c.256+3433T>C | XP_011531000.1:n.256+3433T>C |
| XM_011532698.2:c.256+3433T>C | XP_011531000.1:n.256+3433T>C |