Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293344T>C , CM000663.2:g.168293344T>C | GRCh38 |
| NC_000001.10:g.168262582T>C , CM000663.1:g.168262582T>C | GRCh37 |
| NC_000001.9:g.166529206T>C | NCBI36 |
| NG_008244.1:g.17305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.603+66T>C MANE Select | ENSP00000356795.3:n.603+66T>C | |
| ENST00000367821.7:c.603+66T>C | ENSP00000356795.3:n.603+66T>C | |
| ENST00000431969.5:c.400+66T>C | ||
| NM_005149.2:c.603+66T>C | NP_005140.1:n.603+66T>C | |
| NM_005149.3:c.603+66T>C MANE Select | NP_005140.1:n.603+66T>C |