Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145214C>G , CM000670.2:g.38145214C>G | GRCh38 |
| NC_000008.10:g.38002732C>G , CM000670.1:g.38002732C>G | GRCh37 |
| NC_000008.9:g.38121889C>G | NCBI36 |
| NG_011827.1:g.10869G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.744+8G>C MANE Select | ENSP00000276449.3:n.744+8G>C | |
| ENST00000276449.8:c.744+8G>C | ENSP00000276449.3:n.744+8G>C | |
| ENST00000520114.1:n.1886G>C | ||
| ENST00000522050.1:c.586+749G>C | ||
| NM_000349.2:c.744+8G>C | NP_000340.2:n.744+8G>C | |
| XM_006716392.1:c.650+749G>C | XP_006716455.1:n.650+749G>C | |
| NM_000349.3:c.744+8G>C MANE Select | NP_000340.2:n.744+8G>C |