Linked Data
ClinVar Variation Id:
436828
ClinVar RCV Id:
RCV000500424
dbSNP Id:
rs778864419
ExAC:
6:107955773 C / G
gnomAD v2:
6-107955773-C-G
gnomAD v3:
6-107634569-C-G
gnomAD v4:
6-107634569-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634569C>G , CM000668.2:g.107634569C>G | GRCh38 |
| NC_000006.11:g.107955773C>G , CM000668.1:g.107955773C>G | GRCh37 |
| NC_000006.10:g.108062466C>G | NCBI36 |
| NG_028200.1:g.149457C>G | |
| NG_028200.2:g.149457C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1725C>G MANE Select | ENSP00000318900.5:p.Gly575= | |
| ENST00000317357.9:c.1725C>G | ENSP00000318900.5:p.Gly575= | |
| NM_018013.3:c.1725C>G | NP_060483.3:p.Gly575= | |
| XM_005267041.3:c.1878C>G | XP_005267098.1:p.Gly626= | |
| XM_005267042.3:c.1782C>G | XP_005267099.1:p.Gly594= | |
| XM_011535920.1:c.1878C>G | XP_011534222.1:p.Gly626= | |
| XM_011535921.1:c.1764C>G | XP_011534223.1:p.Gly588= | |
| XM_011535922.1:c.1137C>G | XP_011534224.1:p.Gly379= | |
| XM_011535923.1:c.948C>G | XP_011534225.1:p.Gly316= | |
| XM_005267041.4:c.1878C>G | XP_005267098.1:p.Gly626= | |
| XM_005267042.4:c.1782C>G | XP_005267099.1:p.Gly594= | |
| XM_011535920.2:c.1878C>G | XP_011534222.1:p.Gly626= | |
| XM_011535921.2:c.1764C>G | XP_011534223.1:p.Gly588= | |
| XM_011535923.2:c.948C>G | XP_011534225.1:p.Gly316= | |
| XM_017010991.1:c.1278C>G | XP_016866480.1:p.Gly426= | |
| XM_017010992.1:c.1278C>G | XP_016866481.1:p.Gly426= | |
| XM_017010993.1:c.1278C>G | XP_016866482.1:p.Gly426= | |
| XM_017010994.1:c.1278C>G | XP_016866483.1:p.Gly426= | |
| NM_018013.4:c.1725C>G MANE Select | NP_060483.3:p.Gly575= |