Linked Data
ClinVar Variation Id:
3832
ClinVar RCV Id:
RCV000004036
dbSNP Id:
rs121908005
ExAC:
12:121174846 G / A
gnomAD v2:
12-121174846-G-A
gnomAD v3:
12-120737043-G-A
gnomAD v4:
12-120737043-G-A
PubMed:
PMID:11134486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737043G>A , CM000674.2:g.120737043G>A | GRCh38 |
| NC_000012.11:g.121174846G>A , CM000674.1:g.121174846G>A | GRCh37 |
| NC_000012.10:g.119659229G>A | NCBI36 |
| NG_007991.1:g.16276G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.268G>A MANE Select | ENSP00000242592.4:p.Gly90Ser | |
| ENST00000242592.8:c.268G>A | ENSP00000242592.4:p.Gly90Ser | |
| ENST00000411593.2:c.268G>A | ENSP00000401045.2:p.Gly90Ser | |
| ENST00000539690.1:n.380G>A | ||
| NM_000017.3:c.268G>A | NP_000008.1:p.Gly90Ser | |
| NM_001302554.1:c.268G>A | NP_001289483.1:p.Gly90Ser | |
| NM_000017.4:c.268G>A MANE Select | NP_000008.1:p.Gly90Ser | |
| NM_001302554.2:c.268G>A | NP_001289483.1:p.Gly90Ser |