Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154442107C>T , CM000685.2:g.154442107C>T | GRCh38 |
| NC_000023.10:g.153670454C>T , CM000685.1:g.153670454C>T | GRCh37 |
| NC_000023.9:g.153323648C>T | NCBI36 |
| NG_008954.1:g.10196C>T | |
| NG_013233.1:g.2970C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001493.3:c.992-4C>T MANE Select | NP_001484.1:n.992-4C>T |
| ENST00000447750.7:c.992-4C>T MANE Select | ENSP00000394071.2:n.992-4C>T |
| NM_001493.2:c.992-4C>T | NP_001484.1:n.992-4C>T |
| ENST00000447750.6:c.992-4C>T | ENSP00000394071.2:n.992-4C>T |
| ENST00000460984.1:n.59C>T | |
| ENST00000465640.1:n.342C>T | |
| ENST00000468483.5:n.1272-4C>T | |
| ENST00000489589.1:n.787-4C>T | |
| ENST00000491154.1:n.2715-4C>T |