Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177339718C>A , CM000666.2:g.177339718C>A | GRCh38 |
| NC_000004.11:g.178260872C>A , CM000666.1:g.178260872C>A | GRCh37 |
| NC_000004.10:g.178497866C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018248.3:c.628-65C>A MANE Select | NP_060718.3:n.628-65C>A |
| ENST00000264596.4:c.628-65C>A MANE Select | ENSP00000264596.3:n.628-65C>A |
| NM_018248.2:c.628-65C>A | NP_060718.2:n.628-65C>A |
| ENST00000264596.3:c.628-65C>A | ENSP00000264596.3:n.628-65C>A |
| ENST00000513321.1:c.*313+3397C>A | ENSP00000424735.1:n.*313+3397C>A |
| XM_017008360.1:c.628-65C>A | XP_016863849.1:n.628-65C>A |