Linked Data
ClinVar Variation Id:
253147
ClinVar RCV Id:
RCV000239508
dbSNP Id:
rs752745051
ExAC:
3:127774574 T / G
PubMed:
PMID:27392076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128055731T>G , CM000665.2:g.128055731T>G | GRCh38 |
| NC_000003.11:g.127774574T>G , CM000665.1:g.127774574T>G | GRCh37 |
| NC_000003.10:g.129257264T>G | NCBI36 |
| NG_052786.1:g.8363T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481210.6:c.41T>G | ENSP00000419172.2:p.Val14Gly | |
| ENST00000483956.2:c.200T>G | ENSP00000514247.1:p.Val67Gly | |
| ENST00000491668.2:n.539T>G | ||
| ENST00000699266.1:n.369T>G | ||
| ENST00000699267.1:c.200T>G | ENSP00000514248.1:p.Val67Gly | |
| ENST00000699268.1:n.369T>G | ||
| ENST00000699269.1:c.200T>G | ENSP00000514249.1:p.Val67Gly | |
| ENST00000699270.1:c.200T>G | ENSP00000514250.1:p.Val67Gly | |
| ENST00000699271.1:c.200T>G | ENSP00000514251.1:p.Val67Gly | |
| ENST00000699272.1:c.200T>G | ENSP00000514252.1:p.Val67Gly | |
| ENST00000699273.1:c.200T>G | ENSP00000514253.1:p.Val67Gly | |
| ENST00000699274.1:c.200T>G | ENSP00000514254.1:p.Val67Gly | |
| ENST00000699275.1:c.*70T>G | ENSP00000514255.1:n.*70T>G | |
| ENST00000699280.1:n.319T>G | ||
| ENST00000699281.1:n.313T>G | ||
| ENST00000243253.8:c.200T>G MANE Select | ENSP00000243253.3:p.Val67Gly | |
| ENST00000243253.7:c.200T>G | ENSP00000243253.3:p.Val67Gly | |
| ENST00000424880.2:c.-9+2829T>G | ENSP00000411445.2:n.-9+2829T>G | |
| ENST00000464451.5:c.218T>G | ENSP00000418493.1:p.Val73Gly | |
| ENST00000481210.5:c.41T>G | ENSP00000419172.1:p.Val14Gly | |
| ENST00000491668.1:n.539T>G | ||
| NM_013336.3:c.200T>G | NP_037468.1:p.Val67Gly | |
| NM_013336.4:c.200T>G MANE Select | NP_037468.1:p.Val67Gly | |
| NM_001400328.1:c.218T>G | NP_001387257.1:p.Val73Gly | |
| NM_001400329.1:c.41T>G | NP_001387258.1:p.Val14Gly |