Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46701257G>A , CM000665.2:g.46701257G>A | GRCh38 |
| NC_000003.11:g.46742747G>A , CM000665.1:g.46742747G>A | GRCh37 |
| NC_000003.10:g.46717751G>A | NCBI36 |
| NG_011628.1:g.4925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644830.1:c.-66-4533G>A | ENSP00000495111.1:n.-66-4533G>A | |
| XM_006713097.2:c.-66-4533G>A | XP_006713160.1:n.-66-4533G>A | |
| XM_011533574.1:c.-66-4533G>A | XP_011531876.1:n.-66-4533G>A | |
| XM_006713097.4:c.-66-4533G>A | XP_006713160.1:n.-66-4533G>A | |
| XM_024453446.1:c.-66-4533G>A | XP_024309214.1:n.-66-4533G>A | |
| NM_001370524.1:c.-66-4533G>A | NP_001357453.1:n.-66-4533G>A | |
| NM_001370525.1:c.-66-4533G>A | NP_001357454.1:n.-66-4533G>A |