gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110667691C>A , CM000672.2:g.110667691C>A | GRCh38 |
| NC_000010.10:g.112427449C>A , CM000672.1:g.112427449C>A | GRCh37 |
| NC_000010.9:g.112417439C>A | NCBI36 |
| NG_021177.1:g.28295C>A , LRG_382:g.28295C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.191+23046C>A MANE Select | ENSP00000358532.3:n.191+23046C>A | |
| ENST00000369519.3:c.191+23046C>A | ENSP00000358532.3:n.191+23046C>A | |
| NM_001134363.2:c.191+23046C>A | NP_001127835.2:n.191+23046C>A | |
| XR_428811.2:n.158+198C>A | ||
| XM_017016103.2:c.26+24251C>A | XP_016871592.1:n.26+24251C>A | |
| NM_001134363.3:c.191+23046C>A MANE Select | NP_001127835.2:n.191+23046C>A |