Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822725C>T , CM000671.2:g.129822725C>T | GRCh38 |
| NC_000009.11:g.132585004C>T , CM000671.1:g.132585004C>T | GRCh37 |
| NC_000009.10:g.131624825C>T | NCBI36 |
| NG_008049.1:g.6438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.300G>A MANE Select | ENSP00000345719.4:p.Leu100= | |
| ENST00000651202.1:c.396G>A | ENSP00000498222.1:p.Leu132= | |
| ENST00000351698.4:c.300G>A | ENSP00000345719.4:p.Leu100= | |
| ENST00000473084.1:n.319G>A | ||
| ENST00000473604.2:n.410G>A | ||
| NM_000113.2:c.300G>A | NP_000104.1:p.Leu100= | |
| XR_929731.1:n.460G>A | ||
| XR_929731.3:n.328G>A | ||
| NM_000113.3:c.300G>A MANE Select | NP_000104.1:p.Leu100= |