Linked Data
ClinVar Variation Id:
1510240
ClinVar RCV Id:
RCV002011616
dbSNP Id:
rs772273950
ExAC:
5:14716917 T / C
gnomAD v2:
5-14716917-T-C
gnomAD v4:
5-14716808-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716808T>C , CM000667.2:g.14716808T>C | GRCh38 |
| NC_000005.9:g.14716917T>C , CM000667.1:g.14716917T>C | GRCh37 |
| NC_000005.8:g.14769917T>C | NCBI36 |
| NG_008273.1:g.159971A>G | |
| NG_008273.2:g.159978A>G | |
| NG_051625.1:g.61015T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1039A>G MANE Select | ENSP00000284268.6:p.Asn347Asp | |
| ENST00000284268.6:c.1039A>G | ENSP00000284268.6:p.Asn347Asp | |
| ENST00000502585.1:n.281A>G | ||
| NM_054027.4:c.1039A>G | NP_473368.1:p.Asn347Asp | |
| NM_054027.5:c.1039A>G | NP_473368.1:p.Asn347Asp | |
| XM_017009644.2:c.955A>G | XP_016865133.1:p.Asn319Asp | |
| NM_054027.6:c.1039A>G MANE Select | NP_473368.1:p.Asn347Asp |