Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650493G>T , CM000682.2:g.54650493G>T | GRCh38 |
| NC_000020.10:g.53267032G>T , CM000682.1:g.53267032G>T | GRCh37 |
| NC_000020.9:g.52700439G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*14G>T MANE Select | ENSP00000262593.5:n.*14G>T | |
| ENST00000262593.9:c.*14G>T | ENSP00000262593.5:n.*14G>T | |
| ENST00000395939.5:c.*14G>T | ENSP00000379270.1:n.*14G>T | |
| NM_018431.4:c.*14G>T | NP_060901.2:n.*14G>T | |
| NM_177959.2:c.*14G>T | NP_808874.1:n.*14G>T | |
| XM_011528903.1:c.*14G>T | XP_011527205.1:n.*14G>T | |
| XM_011528904.1:c.*14G>T | XP_011527206.1:n.*14G>T | |
| XM_024451946.1:c.*14G>T | XP_024307714.1:n.*14G>T | |
| NM_018431.5:c.*14G>T MANE Select | NP_060901.2:n.*14G>T | |
| NM_177959.3:c.*14G>T | NP_808874.1:n.*14G>T |