Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12810648T>C , CM000686.2:g.12810648T>C | GRCh38 |
| NC_000024.9:g.14922583T>C , CM000686.1:g.14922583T>C | GRCh37 |
| NC_000024.8:g.13431977T>C | NCBI36 |
| NG_008311.1:g.114424T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.4093-24T>C MANE Select | NP_004645.2:n.4093-24T>C |
| ENST00000338981.7:c.4093-24T>C MANE Select | ENSP00000342812.3:n.4093-24T>C |
| NM_004654.3:c.4093-24T>C | NP_004645.2:n.4093-24T>C |
| ENST00000426564.6:n.4105-24T>C | |
| ENST00000651177.1:c.4093-24T>C | ENSP00000498372.1:n.4093-24T>C |
| XM_011531469.1:c.4093-24T>C | XP_011529771.1:n.4093-24T>C |
| XM_011531470.1:c.3859-24T>C | XP_011529772.1:n.3859-24T>C |
| XM_017030078.2:c.4108-24T>C | XP_016885567.1:n.4108-24T>C |