Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665552T>A , CM000663.2:g.172665552T>A | GRCh38 |
| NC_000001.10:g.172634692T>A , CM000663.1:g.172634692T>A | GRCh37 |
| NC_000001.9:g.170901315T>A | NCBI36 |
| NG_007269.1:g.11508T>A , LRG_58:g.11508T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.452-70T>A MANE Select | ENSP00000356694.2:n.452-70T>A | |
| ENST00000340030.4:c.*22-70T>A | ENSP00000344739.3:n.*22-70T>A | |
| ENST00000367721.2:c.452-70T>A | ENSP00000356694.2:n.452-70T>A | |
| NM_000639.2:c.452-70T>A | NP_000630.1:n.452-70T>A | |
| NM_001302746.1:c.*22-70T>A | NP_001289675.1:n.*22-70T>A | |
| NM_000639.3:c.452-70T>A MANE Select | NP_000630.1:n.452-70T>A | |
| NM_001302746.2:c.*22-70T>A | NP_001289675.1:n.*22-70T>A |