Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019555A>C , CM000674.2:g.6019555A>C | GRCh38 |
| NC_000012.11:g.6128721A>C , CM000674.1:g.6128721A>C | GRCh37 |
| NC_000012.10:g.5998982A>C | NCBI36 |
| NG_009072.1:g.110116T>G | |
| NG_009072.2:g.110116T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3863T>G MANE Select | ENSP00000261405.5:p.Leu1288Arg | |
| ENST00000261405.9:c.3863T>G | ENSP00000261405.5:p.Leu1288Arg | |
| ENST00000538635.5:n.421-25621T>G | ||
| ENST00000539641.1:n.661T>G | ||
| NM_000552.3:c.3863T>G | NP_000543.2:p.Leu1288Arg | |
| NM_000552.4:c.3863T>G | NP_000543.2:p.Leu1288Arg | |
| NM_000552.5:c.3863T>G MANE Select | NP_000543.3:p.Leu1288Arg |