Linked Data
ClinVar Variation Id:
516162
dbSNP Id:
rs777670871
ExAC:
19:4110606 G / C
gnomAD v2:
19-4110606-G-C
gnomAD v3:
19-4110608-G-C
gnomAD v4:
19-4110608-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110608G>C , CM000681.2:g.4110608G>C | GRCh38 |
| NC_000019.9:g.4110606G>C , CM000681.1:g.4110606G>C | GRCh37 |
| NC_000019.8:g.4061606G>C | NCBI36 |
| NG_007996.1:g.18521C>G , LRG_750:g.18521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.790C>G | ||
| ENST00000687128.1:n.790C>G | ||
| ENST00000262948.10:c.351C>G MANE Select | ENSP00000262948.4:p.Arg117= | |
| ENST00000262948.9:c.351C>G | ENSP00000262948.3:p.Arg117= | |
| ENST00000394867.8:c.60C>G | ENSP00000378336.1:p.Arg20= | |
| ENST00000599345.1:n.548C>G | ||
| NM_030662.3:c.351C>G , LRG_750t1:c.351C>G | NP_109587.1:p.Arg117= | |
| XM_006722799.2:c.351C>G | XP_006722862.1:p.Arg117= | |
| XM_017026989.1:c.351C>G | XP_016882478.1:p.Arg117= | |
| XM_017026990.1:c.351C>G | XP_016882479.1:p.Arg117= | |
| XM_017026991.1:c.351C>G | XP_016882480.1:p.Arg117= | |
| NM_030662.4:c.351C>G MANE Select | NP_109587.1:p.Arg117= |