Linked Data
ClinVar Variation Id:
835046
ClinVar RCV Id:
RCV001035849
dbSNP Id:
rs202027945
ExAC:
19:17945508 C / T
gnomAD v2:
19-17945508-C-T
gnomAD v3:
19-17834699-C-T
gnomAD v4:
19-17834699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834699C>T , CM000681.2:g.17834699C>T | GRCh38 |
| NC_000019.9:g.17945508C>T , CM000681.1:g.17945508C>T | GRCh37 |
| NC_000019.8:g.17806508C>T | NCBI36 |
| NG_007273.1:g.18293G>A , LRG_77:g.18293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*779G>A | ENSP00000513006.1:n.*779G>A | |
| ENST00000696967.1:n.1399G>A | ||
| ENST00000696970.1:n.877G>A | ||
| ENST00000458235.7:c.2222G>A MANE Select | ENSP00000391676.1:p.Arg741Gln | |
| ENST00000458235.5:c.2222G>A | ENSP00000391676.1:p.Arg741Gln | |
| ENST00000527031.5:n.2278+2028G>A | ||
| ENST00000527670.5:c.2222G>A | ENSP00000432511.1:p.Arg741Gln | |
| ENST00000534444.1:c.2222G>A | ENSP00000436421.1:p.Arg741Gln | |
| NM_000215.3:c.2222G>A , LRG_77t1:c.2222G>A | NP_000206.2:p.Arg741Gln | |
| XM_005259896.2:c.2351G>A | XP_005259953.1:p.Arg784Gln | |
| XM_006722745.2:c.2222G>A | XP_006722808.1:p.Arg741Gln | |
| XM_011527990.1:c.2351G>A | XP_011526292.1:p.Arg784Gln | |
| XR_430137.2:n.2361G>A | ||
| XM_005259896.3:c.2351G>A | XP_005259953.1:p.Arg784Gln | |
| NM_000215.4:c.2222G>A MANE Select | NP_000206.2:p.Arg741Gln |