Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85283701T>G , CM000674.2:g.85283701T>G | GRCh38 |
| NC_000012.11:g.85677479T>G , CM000674.1:g.85677479T>G | GRCh37 |
| NC_000012.10:g.84201610T>G | NCBI36 |
| NG_023202.1:g.8444T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.356T>G MANE Select | ENSP00000315417.3:p.Leu119Arg | |
| ENST00000316824.3:c.356T>G | ENSP00000315417.3:p.Leu119Arg | |
| NM_006982.2:c.356T>G | NP_008913.2:p.Leu119Arg | |
| XM_005269165.3:c.356T>G | XP_005269222.1:p.Leu119Arg | |
| XM_011538782.1:c.71T>G | XP_011537084.1:p.Leu24Arg | |
| XM_011538783.1:c.71T>G | XP_011537085.1:p.Leu24Arg | |
| XM_011538782.2:c.71T>G | XP_011537084.1:p.Leu24Arg | |
| NM_006982.3:c.356T>G MANE Select | NP_008913.2:p.Leu119Arg |