Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974532C>G , CM000664.2:g.188974532C>G | GRCh38 |
| NC_000002.11:g.189839258C>G , CM000664.1:g.189839258C>G | GRCh37 |
| NC_000002.10:g.189547503C>G | NCBI36 |
| NG_007404.1:g.5160C>G , LRG_3:g.5160C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.43C>G MANE Select | NP_000081.2:p.Leu15Val |
| ENST00000304636.9:c.43C>G MANE Select | ENSP00000304408.4:p.Leu15Val |
| NM_000090.3:c.43C>G , LRG_3t1:c.43C>G | NP_000081.1:p.Leu15Val |
| ENST00000304636.7:c.43C>G | ENSP00000304408.3:p.Leu15Val |
| ENST00000317840.9:c.43C>G | ENSP00000315243.6:p.Leu15Val |
| ENST00000450867.2:c.43C>G | ENSP00000415346.2:p.Leu15Val |
| ENST00000470167.1:n.139C>G | |
| XR_923687.1:n.1795-4053G>C | |
| XR_923688.1:n.1795-4053G>C | |
| XR_923689.1:n.90-4053G>C | |
| XR_923689.3:n.85-4053G>C |