Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028729C>T , CM000666.2:g.52028729C>T | GRCh38 |
| NC_000004.11:g.52894895C>T , CM000666.1:g.52894895C>T | GRCh37 |
| NC_000004.10:g.52589652C>T | NCBI36 |
| NG_008891.1:g.14591G>A , LRG_204:g.14591G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.621+1G>A MANE Select | NP_000223.1:n.621+1G>A |
| ENST00000381431.10:c.621+1G>A MANE Select | ENSP00000370839.6:n.621+1G>A |
| NM_000232.4:c.621+1G>A , LRG_204t1:c.621+1G>A | NP_000223.1:n.621+1G>A |
| ENST00000381431.9:c.621+1G>A | ENSP00000370839.5:n.621+1G>A |
| XM_006714049.2:c.324+1G>A | XP_006714112.1:n.324+1G>A |
| XM_011534403.1:c.411+1G>A | XP_011532705.1:n.411+1G>A |
| XM_011534404.1:c.324+1G>A | XP_011532706.1:n.324+1G>A |