dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110667691C>G , CM000672.2:g.110667691C>G | GRCh38 |
| NC_000010.10:g.112427449C>G , CM000672.1:g.112427449C>G | GRCh37 |
| NC_000010.9:g.112417439C>G | NCBI36 |
| NG_021177.1:g.28295C>G , LRG_382:g.28295C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.191+23046C>G MANE Select | ENSP00000358532.3:n.191+23046C>G | |
| ENST00000369519.3:c.191+23046C>G | ENSP00000358532.3:n.191+23046C>G | |
| NM_001134363.2:c.191+23046C>G | NP_001127835.2:n.191+23046C>G | |
| XR_428811.2:n.158+198C>G | ||
| XM_017016103.2:c.26+24251C>G | XP_016871592.1:n.26+24251C>G | |
| NM_001134363.3:c.191+23046C>G MANE Select | NP_001127835.2:n.191+23046C>G |