Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20769282A>C , CM000686.2:g.20769282A>C | GRCh38 |
| NC_000024.9:g.22931168A>C , CM000686.1:g.22931168A>C | GRCh37 |
| NC_000024.8:g.21340556A>C | NCBI36 |
| NG_032924.1:g.18215A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000629237.2:c.532+306A>C MANE Select | ENSP00000486252.1:n.532+306A>C | |
| ENST00000629237.1:c.532+306A>C | ENSP00000486252.1:n.532+306A>C | |
| NM_001039567.2:c.532+306A>C | NP_001034656.1:n.532+306A>C | |
| XM_011531423.1:c.481+306A>C | XP_011529725.1:n.481+306A>C | |
| NM_001039567.3:c.532+306A>C MANE Select | NP_001034656.1:n.532+306A>C |