Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804082C>T , CM000685.2:g.37804082C>T | GRCh38 |
| NC_000023.10:g.37663335C>T , CM000685.1:g.37663335C>T | GRCh37 |
| NC_000023.9:g.37548279C>T | NCBI36 |
| NG_009065.1:g.29066C>T , LRG_53:g.29066C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.1103C>T MANE Select | NP_000388.2:p.Ala368Val |
| ENST00000378588.5:c.1103C>T MANE Select | ENSP00000367851.4:p.Ala368Val |
| NM_000397.3:c.1103C>T , LRG_53t1:c.1103C>T | NP_000388.2:p.Ala368Val |
| ENST00000378588.4:c.1103C>T | ENSP00000367851.4:p.Ala368Val |
| ENST00000465127.1:c.171+378082C>T | ENSP00000417050.1:n.171+378082C>T |
| ENST00000696170.1:c.*612C>T | ENSP00000512461.1:n.*612C>T |
| ENST00000696171.1:c.1007C>T | ENSP00000512462.1:p.Ala336Val |
| XM_011543890.1:c.797C>T | XP_011542192.1:p.Ala266Val |