Linked Data
ClinVar Variation Id:
2573139
ClinVar RCV Id:
RCV003315386
dbSNP Id:
rs752331818
ExAC:
20:62078144 T / G
gnomAD v2:
20-62078144-T-G
gnomAD v4:
20-63446791-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63446791T>G , CM000682.2:g.63446791T>G | GRCh38 |
| NC_000020.10:g.62078144T>G , CM000682.1:g.62078144T>G | GRCh37 |
| NC_000020.9:g.61548588T>G | NCBI36 |
| NG_009004.1:g.30850A>C | |
| NG_009004.2:g.30850A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.343A>C | ENSP00000516702.1:p.Ile115Leu | |
| ENST00000344425.8:c.343A>C | ENSP00000345523.5:p.Ile115Leu | |
| ENST00000359125.7:c.343A>C MANE Select | ENSP00000352035.2:p.Ile115Leu | |
| ENST00000636065.1:n.129A>C | ||
| ENST00000636255.1:n.81A>C | ||
| ENST00000636623.1:n.104A>C | ||
| ENST00000637133.1:n.116A>C | ||
| ENST00000637193.1:c.-177A>C | ENSP00000490734.1:n.-177A>C | |
| ENST00000637772.1:n.76A>C | ||
| ENST00000637803.1:n.141A>C | ||
| ENST00000344425.7:c.343A>C | ENSP00000345523.5:p.Ile115Leu | |
| ENST00000344462.8:c.343A>C | ENSP00000339611.4:p.Ile115Leu | |
| ENST00000357249.6:c.1A>C | ENSP00000349789.3:p.Ile1Leu | |
| ENST00000359125.6:c.343A>C | ENSP00000352035.2:p.Ile115Leu | |
| ENST00000360480.7:c.343A>C | ENSP00000353668.3:p.Ile115Leu | |
| ENST00000370221.3:n.469A>C | ||
| ENST00000370224.5:c.343A>C | ENSP00000359244.2:p.Ile115Leu | |
| ENST00000625514.2:c.343A>C | ENSP00000486040.1:p.Ile115Leu | |
| ENST00000626313.1:n.185A>C | ||
| ENST00000626839.2:c.343A>C | ENSP00000486706.1:p.Ile115Leu | |
| ENST00000629241.2:c.343A>C | ENSP00000487142.1:p.Ile115Leu | |
| ENST00000629676.2:c.343A>C | ENSP00000486194.1:p.Ile115Leu | |
| NM_004518.4:c.343A>C | NP_004509.2:p.Ile115Leu | |
| NM_172106.1:c.343A>C | NP_742104.1:p.Ile115Leu | |
| NM_172107.2:c.343A>C | NP_742105.1:p.Ile115Leu | |
| NM_172108.3:c.343A>C | NP_742106.1:p.Ile115Leu | |
| NM_172109.1:c.343A>C | NP_742107.1:p.Ile115Leu | |
| XM_006723787.1:c.343A>C | XP_006723850.1:p.Ile115Leu | |
| XM_011528807.1:c.343A>C | XP_011527109.1:p.Ile115Leu | |
| XM_011528808.1:c.343A>C | XP_011527110.1:p.Ile115Leu | |
| XM_011528809.1:c.343A>C | XP_011527111.1:p.Ile115Leu | |
| XM_011528810.1:c.343A>C | XP_011527112.1:p.Ile115Leu | |
| XM_011528811.1:c.343A>C | XP_011527113.1:p.Ile115Leu | |
| XM_011528812.1:c.343A>C | XP_011527114.1:p.Ile115Leu | |
| XM_011528813.1:c.343A>C | XP_011527115.1:p.Ile115Leu | |
| XM_011528815.1:c.343A>C | XP_011527117.1:p.Ile115Leu | |
| XM_011528816.1:c.343A>C | XP_011527118.1:p.Ile115Leu | |
| NM_004518.5:c.343A>C | NP_004509.2:p.Ile115Leu | |
| NM_172106.2:c.343A>C | NP_742104.1:p.Ile115Leu | |
| NM_172107.3:c.343A>C | NP_742105.1:p.Ile115Leu | |
| NM_172108.4:c.343A>C | NP_742106.1:p.Ile115Leu | |
| NM_172109.2:c.343A>C | NP_742107.1:p.Ile115Leu | |
| XM_011528810.2:c.343A>C | XP_011527112.1:p.Ile115Leu | |
| XM_011528811.2:c.343A>C | XP_011527113.1:p.Ile115Leu | |
| XM_017027841.2:c.343A>C | XP_016883330.1:p.Ile115Leu | |
| XM_017027842.2:c.343A>C | XP_016883331.1:p.Ile115Leu | |
| XM_017027843.1:c.274A>C | XP_016883332.1:p.Ile92Leu | |
| XM_017027844.2:c.343A>C | XP_016883333.1:p.Ile115Leu | |
| NM_004518.6:c.343A>C | NP_004509.2:p.Ile115Leu | |
| NM_172106.3:c.343A>C | NP_742104.1:p.Ile115Leu | |
| NM_172107.4:c.343A>C MANE Select | NP_742105.1:p.Ile115Leu | |
| NM_172108.5:c.343A>C | NP_742106.1:p.Ile115Leu | |
| NM_172109.3:c.343A>C | NP_742107.1:p.Ile115Leu | |
| NM_001382235.1:c.343A>C | NP_001369164.1:p.Ile115Leu |