Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180146C>G , CM000681.2:g.15180146C>G | GRCh38 |
| NC_000019.9:g.15290957C>G , CM000681.1:g.15290957C>G | GRCh37 |
| NC_000019.8:g.15151957C>G | NCBI36 |
| NG_009819.1:g.25836G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3253G>C MANE Select | ENSP00000263388.1:p.Val1085Leu | |
| ENST00000263388.6:c.3253G>C | ENSP00000263388.1:p.Val1085Leu | |
| ENST00000601011.1:c.3094G>C | ENSP00000473138.1:p.Val1032Leu | |
| NM_000435.2:c.3253G>C | NP_000426.2:p.Val1085Leu | |
| XM_005259924.3:c.3097G>C | XP_005259981.1:p.Val1033Leu | |
| XM_005259924.4:c.3097G>C | XP_005259981.1:p.Val1033Leu | |
| NM_000435.3:c.3253G>C MANE Select | NP_000426.2:p.Val1085Leu |