Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107709761C>T , CM000669.2:g.107709761C>T | GRCh38 |
| NC_000007.13:g.107350206C>T , CM000669.1:g.107350206C>T | GRCh37 |
| NC_000007.12:g.107137442C>T | NCBI36 |
| NG_008489.1:g.54127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2090-293C>T MANE Select | ENSP00000494017.1:n.2090-293C>T | |
| ENST00000644846.1:c.746-293C>T | ||
| ENST00000265715.7:c.2090-293C>T | ENSP00000265715.3:n.2090-293C>T | |
| ENST00000492030.2:n.377-394C>T | ||
| NM_000441.1:c.2090-293C>T | NP_000432.1:n.2090-293C>T | |
| XM_005250425.1:c.2090-293C>T | XP_005250482.1:n.2090-293C>T | |
| XM_005250425.2:c.2090-293C>T | XP_005250482.1:n.2090-293C>T | |
| XM_017012318.1:c.2012-293C>T | XP_016867807.1:n.2012-293C>T | |
| NM_000441.2:c.2090-293C>T MANE Select | NP_000432.1:n.2090-293C>T |