Linked Data
ClinVar Variation Id:
2724679
ClinVar RCV Id:
RCV003593013
dbSNP Id:
rs747408703
ExAC:
2:128399689 C / G
gnomAD v2:
2-128399689-C-G
gnomAD v3:
2-127642114-C-G
gnomAD v4:
2-127642114-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127642114C>G , CM000664.2:g.127642114C>G | GRCh38 |
| NC_000002.11:g.128399689C>G , CM000664.1:g.128399689C>G | GRCh37 |
| NC_000002.10:g.128116159C>G | NCBI36 |
| NG_042235.1:g.44673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.595G>C MANE Select | ENSP00000347240.4:p.Gly199Arg | |
| ENST00000324938.9:c.667G>C | ENSP00000326888.5:p.Gly223Arg | |
| ENST00000355119.8:c.595G>C | ENSP00000347240.4:p.Gly199Arg | |
| ENST00000409254.1:c.139G>C | ENSP00000386907.1:p.Gly47Arg | |
| ENST00000409286.5:c.139G>C | ENSP00000386252.1:p.Gly47Arg | |
| ENST00000409455.5:c.580G>C | ENSP00000386383.1:p.Gly194Arg | |
| ENST00000409754.5:c.139G>C | ENSP00000386345.1:p.Gly47Arg | |
| ENST00000409808.6:c.580G>C | ENSP00000386637.2:p.Gly194Arg | |
| ENST00000410011.5:c.580G>C | ENSP00000387002.1:p.Gly194Arg | |
| ENST00000410038.5:c.139G>C | ENSP00000386570.1:p.Gly47Arg | |
| ENST00000413578.5:c.53+809G>C | ENSP00000388611.1:n.53+809G>C | |
| ENST00000426981.5:c.18G>C | ||
| ENST00000466410.5:n.731G>C | ||
| ENST00000469300.6:n.2336G>C | ||
| ENST00000476932.5:n.983G>C | ||
| ENST00000484252.5:n.238G>C | ||
| ENST00000545738.6:c.661G>C | ENSP00000443794.2:p.Gly221Arg | |
| ENST00000612860.4:c.319G>C | ENSP00000484949.1:p.Gly107Arg | |
| NM_001136037.2:c.661G>C | NP_001129509.2:p.Gly221Arg | |
| NM_001161403.1:c.595G>C | NP_001154875.1:p.Gly199Arg | |
| NM_001161404.1:c.580G>C | NP_001154876.1:p.Gly194Arg | |
| NM_001256542.1:c.139G>C | NP_001243471.1:p.Gly47Arg | |
| NM_017980.4:c.667G>C | NP_060450.2:p.Gly223Arg | |
| XM_005263709.2:c.580G>C | XP_005263766.1:p.Gly194Arg | |
| XM_005263710.2:c.388G>C | XP_005263767.1:p.Gly130Arg | |
| XM_006712627.2:c.247G>C | XP_006712690.1:p.Gly83Arg | |
| XM_011511453.1:c.581+809G>C | XP_011509755.1:n.581+809G>C | |
| XR_922961.1:n.731G>C | ||
| XM_006712627.4:c.247G>C | XP_006712690.1:p.Gly83Arg | |
| XM_024452983.1:c.580G>C | XP_024308751.1:p.Gly194Arg | |
| XM_024452984.1:c.580G>C | XP_024308752.1:p.Gly194Arg | |
| XM_024452985.1:c.139G>C | XP_024308753.1:p.Gly47Arg | |
| XM_024452986.1:c.139G>C | XP_024308754.1:p.Gly47Arg | |
| XR_922961.2:n.731G>C | ||
| NM_001136037.3:c.661G>C | NP_001129509.2:p.Gly221Arg | |
| NM_001161403.2:c.595G>C | NP_001154875.1:p.Gly199Arg | |
| NM_001136037.4:c.661G>C | NP_001129509.2:p.Gly221Arg | |
| NM_001161403.3:c.595G>C MANE Select | NP_001154875.1:p.Gly199Arg | |
| NM_001161404.2:c.580G>C | NP_001154876.1:p.Gly194Arg | |
| NM_001256542.2:c.139G>C | NP_001243471.1:p.Gly47Arg | |
| NM_017980.5:c.667G>C | NP_060450.2:p.Gly223Arg |