Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803909A>T , CM000685.2:g.37803909A>T | GRCh38 |
| NC_000023.10:g.37663162A>T , CM000685.1:g.37663162A>T | GRCh37 |
| NC_000023.9:g.37548106A>T | NCBI36 |
| NG_009065.1:g.28893A>T , LRG_53:g.28893A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*439A>T | ENSP00000512461.1:n.*439A>T | |
| ENST00000696171.1:c.834A>T | ENSP00000512462.1:p.Leu278= | |
| ENST00000378588.5:c.930A>T MANE Select | ENSP00000367851.4:p.Leu310= | |
| ENST00000378588.4:c.930A>T | ENSP00000367851.4:p.Leu310= | |
| ENST00000465127.1:c.171+377909A>T | ENSP00000417050.1:n.171+377909A>T | |
| ENST00000492288.1:n.355A>T | ||
| NM_000397.3:c.930A>T , LRG_53t1:c.930A>T | NP_000388.2:p.Leu310= | |
| XM_011543890.1:c.624A>T | XP_011542192.1:p.Leu208= | |
| NM_000397.4:c.930A>T MANE Select | NP_000388.2:p.Leu310= |