Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117894G>A , CM000664.2:g.113117894G>A | GRCh38 |
| NC_000002.11:g.113875471G>A , CM000664.1:g.113875471G>A | GRCh37 |
| NC_000002.10:g.113591942G>A | NCBI36 |
| NG_021240.1:g.5002G>A , LRG_188:g.5002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2172G>A | ENSP00000387210.1:n.-272-2172G>A | |
| ENST00000465812.6:n.775+229G>A | ||
| ENST00000361779.7:c.-344G>A | ENSP00000354816.3:n.-344G>A | |
| ENST00000409052.5:c.-272-2172G>A | ENSP00000387210.1:n.-272-2172G>A | |
| NM_000577.4:c.-125G>A | NP_000568.1:n.-125G>A | |
| NM_173841.2:c.-125G>A , LRG_188t1:c.-125G>A | NP_776213.1:n.-125G>A | |
| NM_173843.2:c.-344G>A | NP_776215.1:n.-344G>A | |
| XM_011511121.1:c.-272-2172G>A | XP_011509423.1:n.-272-2172G>A | |
| NM_001318914.1:c.-407G>A | NP_001305843.1:n.-407G>A |