Linked Data
ClinVar Variation Id:
625
dbSNP Id:
rs5030856
ExAC:
12:103237454 T / C
gnomAD v2:
12-103237454-T-C
gnomAD v3:
12-102843676-T-C
gnomAD v4:
12-102843676-T-C
PubMed:
PMID:8088845
PMID:8098245
PMID:8268925
PMID:8889590
PMID:10472529
PMID:10479481
PMID:11180595
PMID:12409276
PMID:12501224
PMID:15557004
PMID:17935162
PMID:19292873
PMID:19394257
PMID:21147011
PMID:22513348
PMID:22763404
PMID:23500595
PMID:23792259
PMID:24048906
PMID:25596310
PMID:26666653
ERepo:
CA114367/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843676T>C , CM000674.2:g.102843676T>C | GRCh38 |
| NC_000012.11:g.103237454T>C , CM000674.1:g.103237454T>C | GRCh37 |
| NC_000012.10:g.101761584T>C | NCBI36 |
| NG_008690.1:g.78927A>G | |
| NG_008690.2:g.119735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1169A>G MANE Select | ENSP00000448059.1:p.Glu390Gly | |
| ENST00000307000.7:c.1154A>G | ENSP00000303500.2:p.Glu385Gly | |
| ENST00000549247.6:n.928A>G | ||
| ENST00000551114.2:n.831A>G | ||
| ENST00000553106.5:c.1169A>G | ENSP00000448059.1:p.Glu390Gly | |
| ENST00000635477.1:c.273A>G | ||
| ENST00000635528.1:n.684A>G | ||
| NM_000277.1:c.1169A>G | NP_000268.1:p.Glu390Gly | |
| XM_011538422.1:c.1112A>G | XP_011536724.1:p.Glu371Gly | |
| NM_000277.2:c.1169A>G | NP_000268.1:p.Glu390Gly | |
| NM_001354304.1:c.1169A>G | NP_001341233.1:p.Glu390Gly | |
| NM_000277.3:c.1169A>G MANE Select | NP_000268.1:p.Glu390Gly | |
| NM_001354304.2:c.1169A>G | NP_001341233.1:p.Glu390Gly |