Linked Data
ClinVar Variation Id:
1095350
ClinVar RCV Id:
RCV001416213
dbSNP Id:
rs370078678
gnomAD v3:
20-63406965-C-G
gnomAD v4:
20-63406965-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406965C>G , CM000682.2:g.63406965C>G | GRCh38 |
| NC_000020.10:g.62038318C>G , CM000682.1:g.62038318C>G | GRCh37 |
| NC_000020.9:g.61508762C>G | NCBI36 |
| NG_009004.1:g.70676G>C | |
| NG_009004.2:g.70676G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2352G>C | ENSP00000516702.1:p.Leu784= | |
| ENST00000359125.7:c.2298G>C MANE Select | ENSP00000352035.2:p.Leu766= | |
| ENST00000637193.1:c.1695G>C | ENSP00000490734.1:p.Leu565= | |
| ENST00000344462.8:c.2205G>C | ENSP00000339611.4:p.Leu735= | |
| ENST00000357249.6:c.1866G>C | ENSP00000349789.3:p.Leu622= | |
| ENST00000359125.6:c.2298G>C | ENSP00000352035.2:p.Leu766= | |
| ENST00000360480.7:c.2214G>C | ENSP00000353668.3:p.Leu738= | |
| ENST00000370224.5:c.2241+81G>C | ENSP00000359244.2:n.2241+81G>C | |
| ENST00000625514.2:c.2205+81G>C | ENSP00000486040.1:n.2205+81G>C | |
| ENST00000626839.2:c.2244G>C | ENSP00000486706.1:p.Leu748= | |
| ENST00000629241.2:c.2133+81G>C | ENSP00000487142.1:n.2133+81G>C | |
| ENST00000629676.2:c.1680-6122G>C | ENSP00000486194.1:n.1680-6122G>C | |
| NM_004518.4:c.2214G>C | NP_004509.2:p.Leu738= | |
| NM_172106.1:c.2244G>C | NP_742104.1:p.Leu748= | |
| NM_172107.2:c.2298G>C | NP_742105.1:p.Leu766= | |
| NM_172108.3:c.2205G>C | NP_742106.1:p.Leu735= | |
| XM_006723787.1:c.2340G>C | XP_006723850.1:p.Leu780= | |
| XM_011528807.1:c.2406G>C | XP_011527109.1:p.Leu802= | |
| XM_011528808.1:c.2403G>C | XP_011527110.1:p.Leu801= | |
| XM_011528809.1:c.2376G>C | XP_011527111.1:p.Leu792= | |
| XM_011528810.1:c.2352G>C | XP_011527112.1:p.Leu784= | |
| XM_011528811.1:c.2322G>C | XP_011527113.1:p.Leu774= | |
| XM_011528812.1:c.2295G>C | XP_011527114.1:p.Leu765= | |
| XM_011528813.1:c.2280G>C | XP_011527115.1:p.Leu760= | |
| XM_011528814.1:c.1887G>C | XP_011527116.1:p.Leu629= | |
| NM_004518.5:c.2214G>C | NP_004509.2:p.Leu738= | |
| NM_172106.2:c.2244G>C | NP_742104.1:p.Leu748= | |
| NM_172107.3:c.2298G>C | NP_742105.1:p.Leu766= | |
| NM_172108.4:c.2205G>C | NP_742106.1:p.Leu735= | |
| XM_011528810.2:c.2352G>C | XP_011527112.1:p.Leu784= | |
| XM_011528811.2:c.2322G>C | XP_011527113.1:p.Leu774= | |
| XM_017027841.2:c.2349G>C | XP_016883330.1:p.Leu783= | |
| XM_017027842.2:c.2286G>C | XP_016883331.1:p.Leu762= | |
| XM_017027843.1:c.2283G>C | XP_016883332.1:p.Leu761= | |
| XM_017027844.2:c.2241G>C | XP_016883333.1:p.Leu747= | |
| XM_017027845.1:c.1314G>C | XP_016883334.1:p.Leu438= | |
| NM_004518.6:c.2214G>C | NP_004509.2:p.Leu738= | |
| NM_172106.3:c.2244G>C | NP_742104.1:p.Leu748= | |
| NM_172107.4:c.2298G>C MANE Select | NP_742105.1:p.Leu766= | |
| NM_172108.5:c.2205G>C | NP_742106.1:p.Leu735= | |
| NM_001382235.1:c.2352G>C | NP_001369164.1:p.Leu784= |