Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782553A>G , CM000663.2:g.58782553A>G | GRCh38 |
| NC_000001.10:g.59248225A>G , CM000663.1:g.59248225A>G | GRCh37 |
| NC_000001.9:g.59020813A>G | NCBI36 |
| NG_047027.1:g.6561T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.584T>C | ENSP00000518166.1:p.Leu195Pro | |
| ENST00000371222.4:c.518T>C MANE Select | ENSP00000360266.2:p.Leu173Pro | |
| ENST00000678696.1:c.518T>C | ENSP00000503132.1:p.Leu173Pro | |
| ENST00000371222.3:c.518T>C | ENSP00000360266.2:p.Leu173Pro | |
| NM_002228.3:c.518T>C | NP_002219.1:p.Leu173Pro | |
| NM_002228.4:c.518T>C MANE Select | NP_002219.1:p.Leu173Pro |