Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196793778G>C , CM000663.2:g.196793778G>C | GRCh38 |
| NC_000001.10:g.196762908G>C , CM000663.1:g.196762908G>C | GRCh37 |
| NC_000001.9:g.195029531G>C | NCBI36 |
| NG_015993.1:g.23979G>C , LRG_175:g.23979G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021023.6:c.*265G>C MANE Select | NP_066303.2:n.*265G>C |
| ENST00000367425.9:c.*265G>C MANE Select | ENSP00000356395.5:n.*265G>C |
| NM_001166624.1:c.*265G>C | NP_001160096.1:n.*265G>C |
| NM_001166624.2:c.*265G>C | NP_001160096.1:n.*265G>C |
| NM_021023.5:c.*265G>C , LRG_175t1:c.*265G>C | NP_066303.2:n.*265G>C |
| ENST00000367425.8:c.*265G>C | ENSP00000356395.4:n.*265G>C |
| ENST00000617219.1:c.563-800G>C | ENSP00000481905.1:n.563-800G>C |
| ENST00000696032.1:c.*265G>C | ENSP00000512341.1:n.*265G>C |