Linked Data
ClinVar Variation Id:
370666
ClinVar RCV Id:
RCV000409645
dbSNP Id:
rs771943685
ExAC:
13:23985378 T / C
gnomAD v2:
13-23985378-T-C
gnomAD v4:
13-23411239-T-C
PubMed:
PMID:19208651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23411239T>C , CM000675.2:g.23411239T>C | GRCh38 |
| NC_000013.10:g.23985378T>C , CM000675.1:g.23985378T>C | GRCh37 |
| NC_000013.9:g.22883378T>C | NCBI36 |
| NG_012342.1:g.27464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682244.1:n.574A>G | ||
| ENST00000682547.1:c.38A>G | ENSP00000507735.1:p.His13Arg | |
| ENST00000682775.1:c.1A>G | ENSP00000508399.1:p.Met1Val | |
| ENST00000682944.1:c.1A>G | ENSP00000507173.1:p.Met1Val | |
| ENST00000683210.1:c.1A>G | ENSP00000506739.1:p.Met1Val | |
| ENST00000683489.1:c.1A>G | ENSP00000508403.1:p.Met1Val | |
| ENST00000683638.1:n.651A>G | ||
| ENST00000683680.1:c.1A>G | ENSP00000507223.1:p.Met1Val | |
| ENST00000684325.1:c.1A>G | ENSP00000508121.1:p.Met1Val | |
| ENST00000684385.1:c.1A>G | ENSP00000507855.1:p.Met1Val | |
| ENST00000684497.1:c.1A>G | ENSP00000507057.1:p.Met1Val | |
| ENST00000382292.9:c.1A>G MANE Select | ENSP00000371729.3:p.Met1Val | |
| ENST00000423156.2:c.1A>G | ENSP00000390925.2:p.Met1Val | |
| ENST00000455470.6:c.1A>G | ENSP00000406565.2:p.Met1Val | |
| ENST00000382292.7:c.1A>G | ENSP00000371729.3:p.Met1Val | |
| ENST00000382298.7:c.1A>G | ENSP00000371735.3:p.Met1Val | |
| NM_014363.5:c.1A>G | NP_055178.3:p.Met1Val | |
| XM_005266338.1:c.1A>G | XP_005266395.1:p.Met1Val | |
| XM_005266338.2:c.1A>G | XP_005266395.1:p.Met1Val | |
| XM_024449337.1:c.1A>G | XP_024305105.1:p.Met1Val | |
| NM_014363.6:c.1A>G MANE Select | NP_055178.3:p.Met1Val |