Linked Data
ClinVar Variation Id:
1562913
ClinVar RCV Id:
RCV002216235
dbSNP Id:
rs764355437
ExAC:
15:65449215 T / C
gnomAD v2:
15-65449215-T-C
gnomAD v3:
15-65156877-T-C
gnomAD v4:
15-65156877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65156877T>C , CM000677.2:g.65156877T>C | GRCh38 |
| NC_000015.9:g.65449215T>C , CM000677.1:g.65449215T>C | GRCh37 |
| NC_000015.8:g.63236268T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300107.7:c.1113A>G MANE Select | ENSP00000300107.3:p.Gln371= | |
| ENST00000558958.1:n.1302A>G | ||
| ENST00000559152.5:c.*194A>G | ENSP00000453461.1:n.*194A>G | |
| NM_006660.3:c.1113A>G | NP_006651.2:p.Gln371= | |
| XM_011521164.1:c.1071A>G | XP_011519466.1:p.Gln357= | |
| XR_931743.1:n.1364A>G | ||
| NM_006660.4:c.1113A>G | NP_006651.2:p.Gln371= | |
| NR_133680.1:n.1268A>G | ||
| XM_011521164.3:c.1071A>G | XP_011519466.1:p.Gln357= | |
| XR_931743.3:n.1334A>G | ||
| NM_006660.5:c.1113A>G MANE Select | NP_006651.2:p.Gln371= | |
| NR_133680.2:n.1190A>G |