Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203495890T>C , CM000663.2:g.203495890T>C | GRCh38 |
| NC_000001.10:g.203465018T>C , CM000663.1:g.203465018T>C | GRCh37 |
| NC_000001.9:g.201731641T>C | NCBI36 |
| NG_022886.1:g.6748T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014359.4:c.-41-75T>C MANE Select | NP_055174.1:n.-41-75T>C |
| ENST00000367222.7:c.-41-75T>C MANE Select | ENSP00000356191.2:n.-41-75T>C |
| NM_014359.3:c.-41-75T>C | NP_055174.1:n.-41-75T>C |
| ENST00000367222.6:c.-41-75T>C | ENSP00000356191.2:n.-41-75T>C |
| XM_011509406.1:c.-116T>C | XP_011507708.1:n.-116T>C |
| XM_011509406.2:c.-116T>C | XP_011507708.1:n.-116T>C |