Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804116G>A , CM000685.2:g.37804116G>A | GRCh38 |
| NC_000023.10:g.37663369G>A , CM000685.1:g.37663369G>A | GRCh37 |
| NC_000023.9:g.37548313G>A | NCBI36 |
| NG_009065.1:g.29100G>A , LRG_53:g.29100G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.1137G>A MANE Select | NP_000388.2:p.Ala379= |
| ENST00000378588.5:c.1137G>A MANE Select | ENSP00000367851.4:p.Ala379= |
| NM_000397.3:c.1137G>A , LRG_53t1:c.1137G>A | NP_000388.2:p.Ala379= |
| ENST00000378588.4:c.1137G>A | ENSP00000367851.4:p.Ala379= |
| ENST00000465127.1:c.171+378116G>A | ENSP00000417050.1:n.171+378116G>A |
| ENST00000696170.1:c.*646G>A | ENSP00000512461.1:n.*646G>A |
| ENST00000696171.1:c.1041G>A | ENSP00000512462.1:p.Ala347= |
| XM_011543890.1:c.831G>A | XP_011542192.1:p.Ala277= |