Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20141662C>A , CM000675.2:g.20141662C>A | GRCh38 |
| NC_000013.10:g.20715801C>A , CM000675.1:g.20715801C>A | GRCh37 |
| NC_000013.9:g.19613801C>A | NCBI36 |
| NG_016399.1:g.24383G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021954.4:c.*319G>T MANE Select | NP_068773.2:n.*319G>T |
| ENST00000241125.4:c.*319G>T MANE Select | ENSP00000241125.3:n.*319G>T |
| NM_021954.3:c.*319G>T | NP_068773.2:n.*319G>T |
| ENST00000241125.3:c.*319G>T | ENSP00000241125.3:n.*319G>T |
| XM_005266353.1:c.*319G>T | XP_005266410.1:n.*319G>T |
| XM_011535048.1:c.*319G>T | XP_011533350.1:n.*319G>T |
| XM_011535048.2:c.*319G>T | XP_011533350.1:n.*319G>T |