Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13711406C>G , CM000668.2:g.13711406C>G | GRCh38 |
| NC_000006.11:g.13711638C>G , CM000668.1:g.13711638C>G | GRCh37 |
| NC_000006.10:g.13819617C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005493.3:c.100G>C MANE Select | NP_005484.2:p.Val34Leu |
| ENST00000011619.6:c.100G>C MANE Select | ENSP00000011619.3:p.Val34Leu |
| NM_005493.2:c.100G>C | NP_005484.2:p.Val34Leu |
| ENST00000011619.5:c.100G>C | ENSP00000011619.3:p.Val34Leu |
| XM_011514205.1:c.100G>C | XP_011512507.1:p.Val34Leu |
| XM_011514205.2:c.100G>C | XP_011512507.1:p.Val34Leu |