Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060137G>C , CM000665.2:g.184060137G>C | GRCh38 |
| NC_000003.11:g.183777925G>C , CM000665.1:g.183777925G>C | GRCh37 |
| NC_000003.10:g.185260619G>C | NCBI36 |
| NG_012749.1:g.12091G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1142-13G>C MANE Select | ENSP00000322617.1:n.1142-13G>C | |
| ENST00000318351.1:c.1142-13G>C | ENSP00000322617.1:n.1142-13G>C | |
| NM_130770.2:c.1142-13G>C | NP_570126.2:n.1142-13G>C | |
| NM_130770.3:c.1142-13G>C MANE Select | NP_570126.2:n.1142-13G>C |