Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120665175C>A , CM000669.2:g.120665175C>A | GRCh38 |
| NC_000007.13:g.120305229C>A , CM000669.1:g.120305229C>A | GRCh37 |
| NC_000007.12:g.120092465C>A | NCBI36 |
| NG_034230.1:g.396508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.1116-67728C>A MANE Select | ENSP00000333496.4:n.1116-67728C>A | |
| ENST00000331113.8:c.1116-67728C>A | ENSP00000333496.4:n.1116-67728C>A | |
| NM_012281.2:c.1116-67728C>A | NP_036413.1:n.1116-67728C>A | |
| NM_012281.3:c.1116-67728C>A MANE Select | NP_036413.1:n.1116-67728C>A |