Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120664947A>G , CM000669.2:g.120664947A>G | GRCh38 |
| NC_000007.13:g.120305001A>G , CM000669.1:g.120305001A>G | GRCh37 |
| NC_000007.12:g.120092237A>G | NCBI36 |
| NG_034230.1:g.396280A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.1116-67956A>G MANE Select | ENSP00000333496.4:n.1116-67956A>G | |
| ENST00000331113.8:c.1116-67956A>G | ENSP00000333496.4:n.1116-67956A>G | |
| NM_012281.2:c.1116-67956A>G | NP_036413.1:n.1116-67956A>G | |
| NM_012281.3:c.1116-67956A>G MANE Select | NP_036413.1:n.1116-67956A>G |