Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379319C>A , CM000685.2:g.154379319C>A | GRCh38 |
| NC_000023.10:g.153607679C>A , CM000685.1:g.153607679C>A | GRCh37 |
| NC_000023.9:g.153260873C>A | NCBI36 |
| NG_008677.1:g.9884C>A , LRG_745:g.9884C>A | |
| NG_011506.1:g.328G>T | |
| NG_011506.2:g.320G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-166C>A MANE Select | ENSP00000358857.4:n.-166C>A | |
| ENST00000369835.3:c.-166C>A | ENSP00000358850.3:n.-166C>A | |
| ENST00000369842.8:c.-166C>A | ENSP00000358857.4:n.-166C>A | |
| NM_000117.2:c.-166C>A , LRG_745t1:c.-166C>A | NP_000108.1:n.-166C>A | |
| XM_024452349.1:c.-374C>A | XP_024308117.1:n.-374C>A | |
| NM_000117.3:c.-166C>A MANE Select | NP_000108.1:n.-166C>A |