Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771714G>T , CM000672.2:g.52771714G>T | GRCh38 |
| NC_000010.10:g.54531474G>T , CM000672.1:g.54531474G>T | GRCh37 |
| NC_000010.9:g.54201480G>T | NCBI36 |
| NG_008196.1:g.4987C>A , LRG_154:g.4987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674931.1:c.-9-70C>A MANE Select | ENSP00000502789.1:n.-9-70C>A | |
| ENST00000675947.1:c.-24-55C>A | ENSP00000502615.1:n.-24-55C>A | |
| XM_006717861.2:c.-24-55C>A | XP_006717924.1:n.-24-55C>A | |
| XM_011539816.1:c.-9-70C>A | XP_011538118.1:n.-9-70C>A | |
| XM_006717861.4:c.-24-55C>A | XP_006717924.1:n.-24-55C>A | |
| XM_011539816.3:c.-9-70C>A | XP_011538118.1:n.-9-70C>A | |
| NM_001378373.1:c.-9-70C>A MANE Select | NP_001365302.1:n.-9-70C>A | |
| NM_001378374.1:c.-24-55C>A | NP_001365303.1:n.-24-55C>A |