Linked Data
ClinVar Variation Id:
910707
ClinVar RCV Id:
RCV001162686
dbSNP Id:
rs1554872800
gnomAD v2:
8-145639404-C-G
gnomAD v4:
8-144414020-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414020C>G , CM000670.2:g.144414020C>G | GRCh38 |
| NC_000008.10:g.145639404C>G , CM000670.1:g.145639404C>G | GRCh37 |
| NC_000008.9:g.145610212C>G | NCBI36 |
| NG_012234.2:g.7871G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1225G>C MANE Select | ENSP00000301305.4:p.Gly409Arg | |
| ENST00000276833.9:c.1150G>C | ENSP00000276833.5:p.Gly384Arg | |
| ENST00000301305.7:c.1225G>C | ENSP00000301305.3:p.Gly409Arg | |
| ENST00000531789.1:n.62G>C | ||
| NM_017767.2:c.1150G>C | NP_060237.2:p.Gly384Arg | |
| NM_130849.3:c.1225G>C | NP_570901.2:p.Gly409Arg | |
| XM_006716599.1:c.1225G>C | XP_006716662.1:p.Gly409Arg | |
| XM_011517153.1:c.943G>C | XP_011515455.1:p.Gly315Arg | |
| XM_024447188.1:c.943G>C | XP_024302956.1:p.Gly315Arg | |
| XM_024447189.1:c.943G>C | XP_024302957.1:p.Gly315Arg | |
| NM_001374839.1:c.943G>C | NP_001361768.1:p.Gly315Arg | |
| NM_017767.3:c.1150G>C | NP_060237.3:p.Gly384Arg | |
| NM_130849.4:c.1225G>C MANE Select | NP_570901.3:p.Gly409Arg |