Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350493C>T , CM000664.2:g.46350493C>T | GRCh38 |
| NC_000002.11:g.46577632C>T , CM000664.1:g.46577632C>T | GRCh37 |
| NC_000002.10:g.46431136C>T | NCBI36 |
| NG_016000.1:g.58092C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.217+3430C>T MANE Select | NP_001421.2:n.217+3430C>T |
| ENST00000263734.5:c.217+3430C>T MANE Select | ENSP00000263734.3:n.217+3430C>T |
| NM_001430.4:c.217+3430C>T | NP_001421.2:n.217+3430C>T |
| ENST00000263734.4:c.217+3430C>T | ENSP00000263734.3:n.217+3430C>T |
| ENST00000449347.5:c.217+3430C>T | ENSP00000406137.1:n.217+3430C>T |
| ENST00000475822.1:n.408+3430C>T | |
| XM_011532698.1:c.256+3430C>T | XP_011531000.1:n.256+3430C>T |
| XM_011532698.2:c.256+3430C>T | XP_011531000.1:n.256+3430C>T |