Linked Data
ClinVar Variation Id:
67261
ClinVar RCV Id:
RCV000057974
RCV000181816
RCV000157264
RCV000470290
RCV000477917
RCV000618627
RCV001841704
dbSNP Id:
rs199473428
ExAC:
7:150648731 C / T
gnomAD v2:
7-150648731-C-T
gnomAD v4:
7-150951643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951643C>T , CM000669.2:g.150951643C>T | GRCh38 |
| NC_000007.13:g.150648731C>T , CM000669.1:g.150648731C>T | GRCh37 |
| NC_000007.12:g.150279664C>T | NCBI36 |
| NG_008916.1:g.31284G>A , LRG_288:g.31284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1048G>A | ||
| ENST00000684241.1:n.2583G>A | ||
| ENST00000262186.10:c.1750G>A MANE Select | ENSP00000262186.5:p.Gly584Ser | |
| ENST00000330883.9:c.730G>A | ENSP00000328531.4:p.Gly244Ser | |
| ENST00000262186.9:c.1750G>A | ENSP00000262186.5:p.Gly584Ser | |
| ENST00000330883.8:c.730G>A | ENSP00000328531.4:p.Gly244Ser | |
| ENST00000430723.4:c.1402G>A | ENSP00000387657.4:p.Gly468Ser | |
| ENST00000461280.1:n.1037G>A | ||
| ENST00000473610.5:n.1055G>A | ||
| ENST00000532957.5:n.1973G>A | ||
| NM_000238.3:c.1750G>A , LRG_288t1:c.1750G>A | NP_000229.1:p.Gly584Ser | |
| NM_001204798.1:c.730G>A | NP_001191727.1:p.Gly244Ser | |
| NM_172056.2:c.1750G>A , LRG_288t2:c.1750G>A | NP_742053.1:p.Gly584Ser | |
| NM_172057.2:c.730G>A , LRG_288t3:c.730G>A | NP_742054.1:p.Gly244Ser | |
| XM_011516185.1:c.1450G>A | XP_011514487.1:p.Gly484Ser | |
| XM_011516186.1:c.1750G>A | XP_011514488.1:p.Gly584Ser | |
| XM_011516185.2:c.1450G>A | XP_011514487.1:p.Gly484Ser | |
| XM_011516186.3:c.1750G>A | XP_011514488.1:p.Gly584Ser | |
| XM_017012195.1:c.1600G>A | XP_016867684.1:p.Gly534Ser | |
| XM_017012196.1:c.1573G>A | XP_016867685.1:p.Gly525Ser | |
| NM_000238.4:c.1750G>A MANE Select | NP_000229.1:p.Gly584Ser | |
| NM_001204798.2:c.730G>A | NP_001191727.1:p.Gly244Ser | |
| NM_172057.3:c.730G>A | NP_742054.1:p.Gly244Ser |