Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2323505C>A , CM000678.2:g.2323505C>A | GRCh38 |
| NC_000016.9:g.2373506C>A , CM000678.1:g.2373506C>A | GRCh37 |
| NC_000016.8:g.2313507C>A | NCBI36 |
| NG_011790.1:g.22242G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.613+18G>T MANE Select | NP_001080.2:n.613+18G>T |
| ENST00000301732.10:c.613+18G>T MANE Select | ENSP00000301732.5:n.613+18G>T |
| NM_001089.2:c.613+18G>T | NP_001080.2:n.613+18G>T |
| ENST00000301732.9:c.613+18G>T | ENSP00000301732.5:n.613+18G>T |
| ENST00000382381.7:c.613+18G>T | ENSP00000371818.3:n.613+18G>T |
| ENST00000563623.5:n.1176+18G>T | |
| ENST00000567910.1:c.*1G>T | ENSP00000454397.1:n.*1G>T |