Linked Data
ClinVar Variation Id:
684536
dbSNP Id:
rs746196486
ExAC:
3:67451256 T / C
gnomAD v2:
3-67451256-T-C
gnomAD v3:
3-67400832-T-C
gnomAD v4:
3-67400832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.67400832T>C , CM000665.2:g.67400832T>C | GRCh38 |
| NC_000003.11:g.67451256T>C , CM000665.1:g.67451256T>C | GRCh37 |
| NC_000003.10:g.67533946T>C | NCBI36 |
| NG_052945.1:g.258783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307227.10:c.1082A>G MANE Select | ENSP00000307432.5:p.Asn361Ser | |
| ENST00000307227.9:c.1082A>G | ENSP00000307432.5:p.Asn361Ser | |
| ENST00000460567.5:c.354A>G | ||
| ENST00000493112.5:c.1082A>G | ENSP00000419325.1:p.Asn361Ser | |
| NM_001177599.1:c.1082A>G | NP_001171070.1:p.Asn361Ser | |
| NM_003848.3:c.1082A>G | NP_003839.2:p.Asn361Ser | |
| XR_245062.2:n.1106A>G | ||
| XR_940506.1:n.1276A>G | ||
| XM_017007420.2:c.1082A>G | XP_016862909.1:p.Asn361Ser | |
| XR_001740348.2:n.1277A>G | ||
| NM_001177599.2:c.1082A>G | NP_001171070.1:p.Asn361Ser | |
| NM_003848.4:c.1082A>G MANE Select | NP_003839.2:p.Asn361Ser |