Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114116G>A , CM000667.2:g.140114116G>A | GRCh38 |
| NC_000005.9:g.139493701G>A , CM000667.1:g.139493701G>A | GRCh37 |
| NC_000005.8:g.139473885G>A | NCBI36 |
| NG_041813.1:g.4994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.-66G>A MANE Select | ENSP00000332706.3:n.-66G>A | |
| ENST00000505703.2:c.-66G>A | ENSP00000498560.1:n.-66G>A | |
| ENST00000651386.1:c.-66G>A | ENSP00000499133.1:n.-66G>A | |
| ENST00000502351.1:n.358G>A | ||
| ENST00000505703.1:n.400G>A | ||
| NM_005859.5:c.-66G>A MANE Select | NP_005850.1:n.-66G>A |