Linked Data
ClinVar Variation Id:
2106
dbSNP Id:
rs28940309
ExAC:
12:116457651 T / C
gnomAD v2:
12-116457651-T-C
gnomAD v4:
12-116019846-T-C
PubMed:
PMID:14638541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116019846T>C , CM000674.2:g.116019846T>C | GRCh38 |
| NC_000012.11:g.116457651T>C , CM000674.1:g.116457651T>C | GRCh37 |
| NC_000012.10:g.114942034T>C | NCBI36 |
| NG_023366.1:g.262341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.752A>G MANE Select | ENSP00000281928.3:p.Glu251Gly | |
| ENST00000548743.2:c.722A>G | ENSP00000448553.2:p.Glu241Gly | |
| ENST00000549786.2:c.180A>G | ||
| ENST00000647567.1:c.662A>G | ENSP00000497136.1:p.Glu221Gly | |
| ENST00000648737.1:n.516A>G | ||
| ENST00000650226.1:c.752A>G | ENSP00000496981.1:p.Glu251Gly | |
| ENST00000281928.7:c.752A>G | ENSP00000281928.3:p.Glu251Gly | |
| NM_015335.4:c.752A>G | NP_056150.1:p.Glu251Gly | |
| XM_011538080.1:c.752A>G | XP_011536382.1:p.Glu251Gly | |
| XM_011538081.1:c.752A>G | XP_011536383.1:p.Glu251Gly | |
| XM_011538082.1:c.722A>G | XP_011536384.1:p.Glu241Gly | |
| XM_011538080.2:c.752A>G | XP_011536382.1:p.Glu251Gly | |
| XM_011538081.2:c.752A>G | XP_011536383.1:p.Glu251Gly | |
| XM_011538082.2:c.722A>G | XP_011536384.1:p.Glu241Gly | |
| XM_017019090.1:c.752A>G | XP_016874579.1:p.Glu251Gly | |
| NM_015335.5:c.752A>G MANE Select | NP_056150.1:p.Glu251Gly |