Linked Data
ClinVar Variation Id:
6324
dbSNP Id:
rs121908636
ExAC:
9:133327655 G / A
gnomAD v2:
9-133327655-G-A
gnomAD v3:
9-130452268-G-A
gnomAD v4:
9-130452268-G-A
COSMIC:
COSM4954903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452268G>A , CM000671.2:g.130452268G>A | GRCh38 |
| NC_000009.11:g.133327655G>A , CM000671.1:g.133327655G>A | GRCh37 |
| NC_000009.10:g.132317476G>A | NCBI36 |
| NG_011542.1:g.12562G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.40G>A MANE Select | ENSP00000253004.6:p.Gly14Ser | |
| ENST00000352480.9:c.40G>A | ENSP00000253004.6:p.Gly14Ser | |
| ENST00000372393.7:c.40G>A | ENSP00000361469.2:p.Gly14Ser | |
| ENST00000372394.5:c.40G>A | ENSP00000361471.1:p.Gly14Ser | |
| ENST00000422569.5:c.40G>A | ENSP00000394212.1:p.Gly14Ser | |
| ENST00000443588.1:c.40G>A | ENSP00000397785.1:p.Gly14Ser | |
| NM_000050.4:c.40G>A | NP_000041.2:p.Gly14Ser | |
| NM_054012.3:c.40G>A | NP_446464.1:p.Gly14Ser | |
| XM_005272200.2:c.40G>A | XP_005272257.1:p.Gly14Ser | |
| XM_011518705.1:c.154G>A | XP_011517007.1:p.Gly52Ser | |
| XM_005272200.3:c.40G>A | XP_005272257.1:p.Gly14Ser | |
| XM_011518705.2:c.154G>A | XP_011517007.1:p.Gly52Ser | |
| XM_017014729.1:c.136G>A | XP_016870218.1:p.Gly46Ser | |
| NM_054012.4:c.40G>A MANE Select | NP_446464.1:p.Gly14Ser |