Linked Data
ClinVar Variation Id:
42780
ClinVar RCV Id:
RCV000035656
RCV000172559
RCV000618826
RCV000771156
RCV001105224
RCV001082031
RCV001105225
RCV003318339
dbSNP Id:
rs138753870
ExAC:
11:47371330 T / C
gnomAD v2:
11-47371330-T-C
gnomAD v3:
11-47349779-T-C
gnomAD v4:
11-47349779-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47349779T>C , CM000673.2:g.47349779T>C | GRCh38 |
| NC_000011.9:g.47371330T>C , CM000673.1:g.47371330T>C | GRCh37 |
| NC_000011.8:g.47327906T>C | NCBI36 |
| NG_007667.1:g.7924A>G , LRG_386:g.7924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.649A>G MANE Select | ENSP00000442795.1:p.Ser217Gly | |
| ENST00000256993.8:c.649A>G | ENSP00000256993.5:p.Ser217Gly | |
| ENST00000399249.6:c.649A>G | ENSP00000382193.2:p.Ser217Gly | |
| ENST00000544791.1:c.649A>G | ENSP00000444259.1:p.Ser217Gly | |
| ENST00000545968.5:c.649A>G | ENSP00000442795.1:p.Ser217Gly | |
| NM_000256.3:c.649A>G , LRG_386t1:c.649A>G MANE Select | NP_000247.2:p.Ser217Gly | |
| XM_011520117.1:c.649A>G | XP_011518419.1:p.Ser217Gly | |
| XM_011520118.1:c.649A>G | XP_011518420.1:p.Ser217Gly |