Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271291A>G , CM000668.2:g.31271291A>G | GRCh38 |
| NC_000006.11:g.31239068A>G , CM000668.1:g.31239068A>G | GRCh37 |
| NC_000006.10:g.31347047A>G | NCBI36 |
| NG_029422.2:g.5841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.401T>C MANE Select | ENSP00000365402.5:p.Leu134Pro | |
| ENST00000376228.9:c.401T>C | ENSP00000365402.5:p.Leu134Pro | |
| ENST00000376237.8:c.384T>C | ENSP00000365412.4:p.Pro128= | |
| ENST00000383329.7:c.401T>C | ENSP00000372819.3:p.Leu134Pro | |
| ENST00000415537.1:c.399T>C | ||
| ENST00000484378.1:n.670T>C | ||
| ENST00000487245.5:n.760T>C | ||
| ENST00000495835.1:n.590T>C | ||
| NM_002117.5:c.401T>C | NP_002108.4:p.Leu134Pro | |
| NM_002117.6:c.401T>C MANE Select | NP_002108.4:p.Leu134Pro |