Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015582T>C , CM000679.2:g.8015582T>C | GRCh38 |
| NC_000017.10:g.7918900T>C , CM000679.1:g.7918900T>C | GRCh37 |
| NC_000017.9:g.7859625T>C | NCBI36 |
| NG_009092.1:g.17913T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2944+80T>C MANE Select | ENSP00000254854.4:n.2944+80T>C | |
| ENST00000254854.4:c.2944+80T>C | ENSP00000254854.4:n.2944+80T>C | |
| NM_000180.3:c.2944+80T>C | NP_000171.1:n.2944+80T>C | |
| XM_011523816.1:c.2944+80T>C | XP_011522118.1:n.2944+80T>C | |
| NM_000180.4:c.2944+80T>C MANE Select | NP_000171.1:n.2944+80T>C |