Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15335529G>C , CM000685.2:g.15335529G>C | GRCh38 |
| NC_000023.10:g.15353651G>C , CM000685.1:g.15353651G>C | GRCh37 |
| NC_000023.9:g.15263572G>C | NCBI36 |
| NG_009786.1:g.5010C>G , LRG_160:g.5010C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002641.3:c.-91C>G , LRG_160t1:c.-91C>G | NP_002632.1:n.-91C>G |
| NM_020473.3:c.-16C>G | NP_065206.3:n.-16C>G |
| NR_033835.1:n.26C>G | |
| NR_033836.1:n.26C>G | |
| ENST00000333590.5:c.-91C>G | ENSP00000369820.3:n.-91C>G |
| ENST00000634582.1:c.-16C>G | ENSP00000489540.1:n.-16C>G |
| ENST00000634640.1:c.-378C>G | ENSP00000489083.1:n.-378C>G |
| ENST00000635598.1:c.-91C>G | ENSP00000489207.1:n.-91C>G |
| ENST00000638131.1:c.-91C>G | ENSP00000490483.1:n.-91C>G |