Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095402G>C , CM000669.2:g.27095402G>C | GRCh38 |
| NC_000007.13:g.27135021G>C , CM000669.1:g.27135021G>C | GRCh37 |
| NC_000007.12:g.27101546G>C | NCBI36 |
| NG_011813.1:g.5605C>G | |
| NG_033087.1:g.4309G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.511C>G MANE Select | ENSP00000494260.2:p.Leu171Val | |
| ENST00000343060.4:c.511C>G | ENSP00000343246.4:p.Leu171Val | |
| ENST00000355633.5:c.355-47C>G | ENSP00000347851.5:n.355-47C>G | |
| NM_005522.4:c.511C>G | NP_005513.1:p.Leu171Val | |
| NM_153620.2:c.355-47C>G | NP_705873.2:n.355-47C>G | |
| NM_005522.5:c.511C>G MANE Select | NP_005513.2:p.Leu171Val | |
| NM_153620.3:c.355-47C>G | NP_705873.3:n.355-47C>G |