Linked Data
dbSNP Id:
rs775437460
ExAC:
1:1956397 G / A
gnomAD v2:
1-1956397-G-A
gnomAD v3:
1-2024958-G-A
gnomAD v4:
1-2024958-G-A
COSMIC:
COSM4686149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024958G>A , CM000663.2:g.2024958G>A | GRCh38 |
| NC_000001.10:g.1956397G>A , CM000663.1:g.1956397G>A | GRCh37 |
| NC_000001.9:g.1946257G>A | NCBI36 |
| NG_008168.1:g.10630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.85G>A MANE Select | ENSP00000367848.4:p.Gly29Ser | |
| ENST00000638411.1:c.85G>A | ENSP00000491632.1:p.Gly29Ser | |
| ENST00000638604.1:n.149G>A | ||
| ENST00000638771.1:c.85G>A | ENSP00000492435.1:p.Gly29Ser | |
| ENST00000639045.1:c.*71G>A | ENSP00000491997.1:n.*71G>A | |
| ENST00000639777.1:n.689G>A | ||
| ENST00000639935.1:n.122G>A | ||
| ENST00000640030.1:c.25G>A | ENSP00000491411.1:p.Gly9Ser | |
| ENST00000640067.1:c.85G>A | ENSP00000491844.1:p.Gly29Ser | |
| ENST00000640423.1:n.94G>A | ||
| ENST00000640949.1:c.85G>A | ENSP00000492500.1:p.Gly29Ser | |
| ENST00000378585.5:c.85G>A | ENSP00000367848.4:p.Gly29Ser | |
| NM_000815.4:c.85G>A | NP_000806.2:p.Gly29Ser | |
| XM_011541194.1:c.124G>A | XP_011539496.1:p.Gly42Ser | |
| XM_011541194.3:c.124G>A | XP_011539496.1:p.Gly42Ser | |
| XM_017000936.1:c.790G>A | XP_016856425.1:p.Gly264Ser | |
| NM_000815.5:c.85G>A MANE Select | NP_000806.2:p.Gly29Ser |