Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804123C>T , CM000685.2:g.37804123C>T | GRCh38 |
| NC_000023.10:g.37663376C>T , CM000685.1:g.37663376C>T | GRCh37 |
| NC_000023.9:g.37548320C>T | NCBI36 |
| NG_009065.1:g.29107C>T , LRG_53:g.29107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*653C>T | ENSP00000512461.1:n.*653C>T | |
| ENST00000696171.1:c.1048C>T | ENSP00000512462.1:p.Leu350= | |
| ENST00000378588.5:c.1144C>T MANE Select | ENSP00000367851.4:p.Leu382= | |
| ENST00000378588.4:c.1144C>T | ENSP00000367851.4:p.Leu382= | |
| ENST00000465127.1:c.171+378123C>T | ENSP00000417050.1:n.171+378123C>T | |
| NM_000397.3:c.1144C>T , LRG_53t1:c.1144C>T | NP_000388.2:p.Leu382= | |
| XM_011543890.1:c.838C>T | XP_011542192.1:p.Leu280= | |
| NM_000397.4:c.1144C>T MANE Select | NP_000388.2:p.Leu382= |