| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145925876G>C , CM000663.2:g.145925876G>C | GRCh38 |
| NC_000001.10:g.145509217C>G , CM000663.1:g.145509217C>G | GRCh37 |
| NC_000001.9:g.144220574C>G | NCBI36 |
| NG_032654.2:g.6661C>G , LRG_574:g.6661C>G |
| HGVS | Amino-acid Change |
|---|---|
| NM_005105.5:c.*6C>G MANE Select | NP_005096.1:n.*6C>G |
| ENST00000583313.7:c.*6C>G MANE Select | ENSP00000463058.2:n.*6C>G |
| NM_005105.4:c.*6C>G , LRG_574t1:c.*6C>G | NP_005096.1:n.*6C>G |
| ENST00000369307.4:c.*6C>G | ENSP00000358313.3:n.*6C>G |
| ENST00000583313.6:c.*6C>G | ENSP00000463058.1:n.*6C>G |
| ENST00000632040.1:c.326C>G | |
| ENST00000632555.1:c.*3+3C>G | ENSP00000488265.1:n.*3+3C>G |
| ENST00000633781.1:c.326C>G | |
| ENST00000634130.1:n.449C>G | |
| ENST00000691760.1:c.*6C>G | ENSP00000510519.1:n.*6C>G |
| ENST00000692065.1:n.890C>G |