Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711397G>T , CM000677.2:g.44711397G>T | GRCh38 |
| NC_000015.9:g.45003595G>T , CM000677.1:g.45003595G>T | GRCh37 |
| NC_000015.8:g.42790887G>T | NCBI36 |
| NG_012920.1:g.4911G>T | |
| NG_012920.2:g.4921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.40G>T (B2M) | ||
| XM_011521338.3:c.-631C>A (PATL2) | XP_011519640.1:n.-631C>A | |
| XM_011521339.3:c.-512C>A (PATL2) | XP_011519641.1:n.-512C>A | |
| XM_011521340.3:c.-453C>A (PATL2) | XP_011519642.1:n.-453C>A | |
| XM_011521343.3:c.-715C>A (PATL2) | XP_011519645.1:n.-715C>A | |
| XM_011521345.3:c.-686C>A (PATL2) | XP_011519647.1:n.-686C>A |