Linked Data
ClinVar Variation Id:
1350497
dbSNP Id:
rs150301410
ExAC:
5:14716916 T / C
gnomAD v2:
5-14716916-T-C
gnomAD v3:
5-14716807-T-C
gnomAD v4:
5-14716807-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716807T>C , CM000667.2:g.14716807T>C | GRCh38 |
| NC_000005.9:g.14716916T>C , CM000667.1:g.14716916T>C | GRCh37 |
| NC_000005.8:g.14769916T>C | NCBI36 |
| NG_008273.1:g.159972A>G | |
| NG_008273.2:g.159979A>G | |
| NG_051625.1:g.61014T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1040A>G MANE Select | ENSP00000284268.6:p.Asn347Ser | |
| ENST00000284268.6:c.1040A>G | ENSP00000284268.6:p.Asn347Ser | |
| ENST00000502585.1:n.282A>G | ||
| NM_054027.4:c.1040A>G | NP_473368.1:p.Asn347Ser | |
| NM_054027.5:c.1040A>G | NP_473368.1:p.Asn347Ser | |
| XM_017009644.2:c.956A>G | XP_016865133.1:p.Asn319Ser | |
| NM_054027.6:c.1040A>G MANE Select | NP_473368.1:p.Asn347Ser |