Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830852C>T , CM000674.2:g.101830852C>T | GRCh38 |
| NC_000012.11:g.102224630C>T , CM000674.1:g.102224630C>T | GRCh37 |
| NC_000012.10:g.100748761C>T | NCBI36 |
| NG_021243.1:g.5016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-177G>A MANE Select | ENSP00000299314.7:n.-177G>A | |
| ENST00000299314.11:c.-177G>A | ENSP00000299314.7:n.-177G>A | |
| NM_024312.4:c.-177G>A | NP_077288.2:n.-177G>A | |
| XM_006719593.2:c.-177G>A | XP_006719656.1:n.-177G>A | |
| NM_024312.5:c.-177G>A MANE Select | NP_077288.2:n.-177G>A |