Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20760126G>C , CM000686.2:g.20760126G>C | GRCh38 |
| NC_000024.9:g.22922012G>C , CM000686.1:g.22922012G>C | GRCh37 |
| NC_000024.8:g.21331400G>C | NCBI36 |
| NG_032924.1:g.9059G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.262+78G>C MANE Select | ENSP00000486252.1:n.262+78G>C | |
| ENST00000629237.1:c.262+78G>C | ENSP00000486252.1:n.262+78G>C | |
| NM_001039567.2:c.262+78G>C | NP_001034656.1:n.262+78G>C | |
| XM_011531423.1:c.211+78G>C | XP_011529725.1:n.211+78G>C | |
| NM_001039567.3:c.262+78G>C MANE Select | NP_001034656.1:n.262+78G>C |