Linked Data
ClinVar Variation Id:
130361
dbSNP Id:
rs9486659
ExAC:
6:107956095 A / G
gnomAD v2:
6-107956095-A-G
gnomAD v3:
6-107634891-A-G
gnomAD v4:
6-107634891-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634891A>G , CM000668.2:g.107634891A>G | GRCh38 |
| NC_000006.11:g.107956095A>G , CM000668.1:g.107956095A>G | GRCh37 |
| NC_000006.10:g.108062788A>G | NCBI36 |
| NG_028200.1:g.149779A>G | |
| NG_028200.2:g.149779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.2047A>G MANE Select | ENSP00000318900.5:p.Ser683Gly | |
| ENST00000317357.9:c.2047A>G | ENSP00000318900.5:p.Ser683Gly | |
| NM_018013.3:c.2047A>G | NP_060483.3:p.Ser683Gly | |
| XM_005267041.3:c.2200A>G | XP_005267098.1:p.Ser734Gly | |
| XM_005267042.3:c.2104A>G | XP_005267099.1:p.Ser702Gly | |
| XM_011535920.1:c.2200A>G | XP_011534222.1:p.Ser734Gly | |
| XM_011535921.1:c.2086A>G | XP_011534223.1:p.Ser696Gly | |
| XM_011535922.1:c.1459A>G | XP_011534224.1:p.Ser487Gly | |
| XM_011535923.1:c.1270A>G | XP_011534225.1:p.Ser424Gly | |
| XM_005267041.4:c.2200A>G | XP_005267098.1:p.Ser734Gly | |
| XM_005267042.4:c.2104A>G | XP_005267099.1:p.Ser702Gly | |
| XM_011535920.2:c.2200A>G | XP_011534222.1:p.Ser734Gly | |
| XM_011535921.2:c.2086A>G | XP_011534223.1:p.Ser696Gly | |
| XM_011535923.2:c.1270A>G | XP_011534225.1:p.Ser424Gly | |
| XM_017010991.1:c.1600A>G | XP_016866480.1:p.Ser534Gly | |
| XM_017010992.1:c.1600A>G | XP_016866481.1:p.Ser534Gly | |
| XM_017010993.1:c.1600A>G | XP_016866482.1:p.Ser534Gly | |
| XM_017010994.1:c.1600A>G | XP_016866483.1:p.Ser534Gly | |
| NM_018013.4:c.2047A>G MANE Select | NP_060483.3:p.Ser683Gly |