Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379396G>A , CM000685.2:g.154379396G>A | GRCh38 |
| NC_000023.10:g.153607756G>A , CM000685.1:g.153607756G>A | GRCh37 |
| NC_000023.9:g.153260950G>A | NCBI36 |
| NG_008677.1:g.9961G>A , LRG_745:g.9961G>A | |
| NG_011506.1:g.251C>T | |
| NG_011506.2:g.243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-89G>A MANE Select | ENSP00000358857.4:n.-89G>A | |
| ENST00000369835.3:c.-89G>A | ENSP00000358850.3:n.-89G>A | |
| ENST00000369842.8:c.-89G>A | ENSP00000358857.4:n.-89G>A | |
| ENST00000428228.5:c.-89G>A | ENSP00000401081.1:n.-89G>A | |
| ENST00000486738.5:n.56G>A | ||
| NM_000117.2:c.-89G>A , LRG_745t1:c.-89G>A | NP_000108.1:n.-89G>A | |
| XM_024452349.1:c.-297G>A | XP_024308117.1:n.-297G>A | |
| NM_000117.3:c.-89G>A MANE Select | NP_000108.1:n.-89G>A |