Linked Data
ClinVar Variation Id:
1485544
ClinVar RCV Id:
RCV002000815
dbSNP Id:
rs139216072
ExAC:
1:100680428 T / C
gnomAD v2:
1-100680428-T-C
gnomAD v3:
1-100214872-T-C
gnomAD v4:
1-100214872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100214872T>C , CM000663.2:g.100214872T>C | GRCh38 |
| NC_000001.10:g.100680428T>C , CM000663.1:g.100680428T>C | GRCh37 |
| NC_000001.9:g.100453016T>C | NCBI36 |
| NG_011852.2:g.39982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.884A>G | ENSP00000505544.1:p.Lys295Arg | |
| ENST00000681780.1:c.341A>G | ENSP00000505780.1:p.Lys114Arg | |
| ENST00000370131.3:c.884A>G | ENSP00000359150.3:p.Lys295Arg | |
| ENST00000370132.8:c.884A>G MANE Select | ENSP00000359151.3:p.Lys295Arg | |
| NM_001918.3:c.884A>G | NP_001909.3:p.Lys295Arg | |
| XM_005270545.2:c.341A>G | XP_005270602.1:p.Lys114Arg | |
| XM_005270546.2:c.341A>G | XP_005270603.1:p.Lys114Arg | |
| XR_946560.1:n.904A>G | ||
| XM_005270545.4:c.341A>G | XP_005270602.1:p.Lys114Arg | |
| XM_017000468.2:c.341A>G | XP_016855957.1:p.Lys114Arg | |
| XM_017000469.2:c.341A>G | XP_016855958.1:p.Lys114Arg | |
| XR_946560.3:n.901A>G | ||
| NM_001918.4:c.884A>G | NP_001909.3:p.Lys295Arg | |
| NM_001918.5:c.884A>G MANE Select | NP_001909.4:p.Lys295Arg | |
| NM_001399969.1:c.341A>G | NP_001386898.1:p.Lys114Arg | |
| NM_001399972.1:c.341A>G | NP_001386901.1:p.Lys114Arg | |
| NR_174363.1:n.716A>G | ||
| NR_174364.1:n.898A>G | ||
| NR_174365.1:n.681A>G | ||
| NR_174366.1:n.898A>G |