Linked Data
dbSNP Id:
rs772329794
gnomAD v2:
20-6758933-C-G
gnomAD v3:
20-6778286-C-G
gnomAD v4:
20-6778286-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778286C>G , CM000682.2:g.6778286C>G | GRCh38 |
| NC_000020.10:g.6758933C>G , CM000682.1:g.6758933C>G | GRCh37 |
| NC_000020.9:g.6706933C>G | NCBI36 |
| NG_023233.1:g.15189C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.388C>G MANE Select | ENSP00000368104.3:p.Arg130Gly | |
| ENST00000378827.4:c.388C>G | ENSP00000368104.3:p.Arg130Gly | |
| NM_001200.2:c.388C>G | NP_001191.1:p.Arg130Gly | |
| XM_011529323.1:c.-81C>G | XP_011527625.1:n.-81C>G | |
| NM_001200.3:c.388C>G | NP_001191.1:p.Arg130Gly | |
| NM_001200.4:c.388C>G MANE Select | NP_001191.1:p.Arg130Gly |