Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147824634C>A , CM000667.2:g.147824634C>A | GRCh38 |
| NC_000005.9:g.147204197C>A , CM000667.1:g.147204197C>A | GRCh37 |
| NC_000005.8:g.147184390C>A | NCBI36 |
| NG_008356.2:g.19598G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.*27G>T MANE Select | NP_001366539.1:n.*27G>T |
| ENST00000296695.10:c.*27G>T MANE Select | ENSP00000296695.5:n.*27G>T |
| NM_001354966.1:c.*27G>T | NP_001341895.1:n.*27G>T |
| NM_001354966.2:c.*27G>T | NP_001341895.1:n.*27G>T |
| NM_003122.4:c.*27G>T | NP_003113.2:n.*27G>T |
| NM_003122.5:c.*27G>T | NP_003113.2:n.*27G>T |
| ENST00000296695.9:c.*27G>T | ENSP00000296695.5:n.*27G>T |
| ENST00000505722.1:n.182G>T |