Linked Data
ClinVar Variation Id:
874476
dbSNP Id:
rs556603981
ExAC:
1:2337970 C / T
gnomAD v2:
1-2337970-C-T
gnomAD v3:
1-2406531-C-T
gnomAD v4:
1-2406531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406531C>T , CM000663.2:g.2406531C>T | GRCh38 |
| NC_000001.10:g.2337970C>T , CM000663.1:g.2337970C>T | GRCh37 |
| NC_000001.9:g.2327830C>T | NCBI36 |
| NG_008342.1:g.11041G>A | |
| NG_016128.1:g.19757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.925G>A | ENSP00000288774.3:p.Gly309Ser | |
| ENST00000447513.7:c.865G>A MANE Select | ENSP00000407922.2:p.Gly289Ser | |
| ENST00000650293.1:c.819G>A | ||
| ENST00000288774.7:c.925G>A | ENSP00000288774.3:p.Gly309Ser | |
| ENST00000447513.6:c.865G>A | ENSP00000407922.2:p.Gly289Ser | |
| ENST00000507596.5:c.865G>A | ENSP00000424291.1:p.Gly289Ser | |
| ENST00000510434.1:c.*231G>A | ENSP00000423051.1:n.*231G>A | |
| NM_002617.3:c.865G>A | NP_002608.1:p.Gly289Ser | |
| NM_153818.1:c.925G>A | NP_722540.1:p.Gly309Ser | |
| XM_011541573.1:c.922G>A | XP_011539875.1:p.Gly308Ser | |
| XM_011541574.1:c.490G>A | XP_011539876.1:p.Gly164Ser | |
| XM_011541575.1:c.490G>A | XP_011539877.1:p.Gly164Ser | |
| XR_946666.1:n.981G>A | ||
| XR_946666.2:n.930G>A | ||
| NM_001374425.1:c.922G>A | NP_001361354.1:p.Gly308Ser | |
| NM_001374426.1:c.490G>A | NP_001361355.1:p.Gly164Ser | |
| NM_001374427.1:c.433G>A | NP_001361356.1:p.Gly145Ser | |
| NM_002617.4:c.865G>A MANE Select | NP_002608.1:p.Gly289Ser | |
| NM_153818.2:c.925G>A | NP_722540.1:p.Gly309Ser | |
| NR_164636.1:n.980G>A |