Linked Data
dbSNP Id:
rs748621249
ExAC:
20:42744272 C / G
gnomAD v2:
20-42744272-C-G
gnomAD v4:
20-44115632-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115632C>G , CM000682.2:g.44115632C>G | GRCh38 |
| NC_000020.10:g.42744272C>G , CM000682.1:g.42744272C>G | GRCh37 |
| NC_000020.9:g.42177686C>G | NCBI36 |
| NG_031867.1:g.76947G>C , LRG_394:g.76947G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.2010+33G>C MANE Select | ENSP00000362071.3:n.2010+33G>C | |
| ENST00000372980.3:c.2010+33G>C | ENSP00000362071.3:n.2010+33G>C | |
| NM_020433.4:c.2010+33G>C , LRG_394t1:c.2010+33G>C | NP_065166.2:n.2010+33G>C | |
| XM_006723832.2:c.2010+33G>C | XP_006723895.1:n.2010+33G>C | |
| NM_020433.5:c.2010+33G>C MANE Select | NP_065166.2:n.2010+33G>C |