Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379388C>T , CM000685.2:g.154379388C>T | GRCh38 |
| NC_000023.10:g.153607748C>T , CM000685.1:g.153607748C>T | GRCh37 |
| NC_000023.9:g.153260942C>T | NCBI36 |
| NG_008677.1:g.9953C>T , LRG_745:g.9953C>T | |
| NG_011506.1:g.259G>A | |
| NG_011506.2:g.251G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369842.9:c.-97C>T MANE Select | ENSP00000358857.4:n.-97C>T | |
| ENST00000369835.3:c.-97C>T | ENSP00000358850.3:n.-97C>T | |
| ENST00000369842.8:c.-97C>T | ENSP00000358857.4:n.-97C>T | |
| ENST00000428228.5:c.-97C>T | ENSP00000401081.1:n.-97C>T | |
| ENST00000486738.5:n.48C>T | ||
| NM_000117.2:c.-97C>T , LRG_745t1:c.-97C>T | NP_000108.1:n.-97C>T | |
| XM_024452349.1:c.-305C>T | XP_024308117.1:n.-305C>T | |
| NM_000117.3:c.-97C>T MANE Select | NP_000108.1:n.-97C>T |