Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071762C>T , CM000667.2:g.111071762C>T | GRCh38 |
| NC_000005.9:g.110407460C>T , CM000667.1:g.110407460C>T | GRCh37 |
| NC_000005.8:g.110435359C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.-129C>T MANE Select | ENSP00000339804.3:n.-129C>T | |
| ENST00000344895.3:c.-129C>T | ENSP00000339804.3:n.-129C>T | |
| ENST00000420978.6:c.35-163C>T | ENSP00000399099.2:n.35-163C>T | |
| NM_033035.4:c.-129C>T | NP_149024.1:n.-129C>T | |
| NR_045089.1:n.1439-163C>T | ||
| NM_033035.5:c.-129C>T MANE Select | NP_149024.1:n.-129C>T | |
| NR_045089.2:n.1457-163C>T |