Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132671A>G , CM000683.2:g.46132671A>G | GRCh38 |
| NC_000021.8:g.47552585A>G , CM000683.1:g.47552585A>G | GRCh37 |
| NC_000021.7:g.46377013A>G | NCBI36 |
| NG_008675.1:g.39553A>G , LRG_476:g.39553A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.*119A>G MANE Select | NP_001840.3:n.*119A>G |
| ENST00000300527.9:c.*119A>G MANE Select | ENSP00000300527.4:n.*119A>G |
| NM_001849.3:c.*119A>G , LRG_476t1:c.*119A>G | NP_001840.3:n.*119A>G |
| ENST00000300527.8:c.*119A>G | ENSP00000300527.4:n.*119A>G |
| XM_011529451.1:c.*119A>G | XP_011527753.1:n.*119A>G |
| XM_011529452.1:c.*119A>G | XP_011527754.1:n.*119A>G |
| XR_937438.1:n.3256A>G | |
| XR_937438.2:n.3263A>G |