Linked Data
ClinVar Variation Id:
868
ClinVar RCV Id:
RCV000000916
dbSNP Id:
rs121918188
ExAC:
9:97372280 C / T
gnomAD v2:
9-97372280-C-T
gnomAD v3:
9-94609998-C-T
gnomAD v4:
9-94609998-C-T
PubMed:
PMID:9382095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94609998C>T , CM000671.2:g.94609998C>T | GRCh38 |
| NC_000009.11:g.97372280C>T , CM000671.1:g.97372280C>T | GRCh37 |
| NC_000009.10:g.96412101C>T | NCBI36 |
| NG_008174.1:g.35252G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682520.1:c.490G>A | ENSP00000507547.1:p.Gly164Ser | |
| ENST00000375326.9:c.490G>A MANE Select | ENSP00000364475.5:p.Gly164Ser | |
| ENST00000648117.1:c.295G>A | ENSP00000498145.1:p.Gly99Ser | |
| ENST00000375326.8:c.490G>A | ENSP00000364475.4:p.Gly164Ser | |
| ENST00000414122.1:c.238G>A | ENSP00000411619.1:p.Gly80Ser | |
| ENST00000415431.5:c.490G>A | ENSP00000408025.1:p.Gly164Ser | |
| NM_000507.3:c.490G>A | NP_000498.2:p.Gly164Ser | |
| NM_001127628.1:c.490G>A | NP_001121100.1:p.Gly164Ser | |
| XM_006717005.2:c.244G>A | XP_006717068.1:p.Gly82Ser | |
| XM_006717005.4:c.244G>A | XP_006717068.1:p.Gly82Ser | |
| NM_000507.4:c.490G>A MANE Select | NP_000498.2:p.Gly164Ser | |
| NM_001127628.2:c.490G>A | NP_001121100.1:p.Gly164Ser |