Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114904496G>A , CM000671.2:g.114904496G>A | GRCh38 |
| NC_000009.11:g.117666776G>A , CM000671.1:g.117666776G>A | GRCh37 |
| NC_000009.10:g.116706597G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223795.3:c.311-171C>T MANE Select | ENSP00000223795.2:n.311-171C>T | |
| ENST00000223795.2:c.311-171C>T | ENSP00000223795.2:n.311-171C>T | |
| ENST00000618336.4:c.311-171C>T | ENSP00000484651.1:n.311-171C>T | |
| NM_001244.3:c.311-171C>T | NP_001235.1:n.311-171C>T | |
| NM_001252290.1:c.311-171C>T | NP_001239219.1:n.311-171C>T | |
| XM_024447719.1:c.239-171C>T | XP_024303487.1:n.239-171C>T | |
| XR_001746422.2:n.599-171C>T | ||
| NM_001244.4:c.311-171C>T MANE Select | NP_001235.1:n.311-171C>T |