Linked Data
ClinVar Variation Id:
2573138
ClinVar RCV Id:
RCV003315385
dbSNP Id:
rs771809196
ExAC:
20:62078175 G / C
gnomAD v2:
20-62078175-G-C
gnomAD v4:
20-63446822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63446822G>C , CM000682.2:g.63446822G>C | GRCh38 |
| NC_000020.10:g.62078175G>C , CM000682.1:g.62078175G>C | GRCh37 |
| NC_000020.9:g.61548619G>C | NCBI36 |
| NG_009004.1:g.30819C>G | |
| NG_009004.2:g.30819C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.312C>G | ENSP00000516702.1:p.Phe104Leu | |
| ENST00000344425.8:c.312C>G | ENSP00000345523.5:p.Phe104Leu | |
| ENST00000359125.7:c.312C>G MANE Select | ENSP00000352035.2:p.Phe104Leu | |
| ENST00000636042.1:n.92C>G | ||
| ENST00000636065.1:n.98C>G | ||
| ENST00000636255.1:n.50C>G | ||
| ENST00000636591.1:n.88C>G | ||
| ENST00000636623.1:n.73C>G | ||
| ENST00000636959.1:n.104C>G | ||
| ENST00000637133.1:n.85C>G | ||
| ENST00000637193.1:c.-208C>G | ENSP00000490734.1:n.-208C>G | |
| ENST00000637772.1:n.45C>G | ||
| ENST00000637803.1:n.110C>G | ||
| ENST00000344425.7:c.312C>G | ENSP00000345523.5:p.Phe104Leu | |
| ENST00000344462.8:c.312C>G | ENSP00000339611.4:p.Phe104Leu | |
| ENST00000359125.6:c.312C>G | ENSP00000352035.2:p.Phe104Leu | |
| ENST00000360480.7:c.312C>G | ENSP00000353668.3:p.Phe104Leu | |
| ENST00000370221.3:n.438C>G | ||
| ENST00000370224.5:c.312C>G | ENSP00000359244.2:p.Phe104Leu | |
| ENST00000625514.2:c.312C>G | ENSP00000486040.1:p.Phe104Leu | |
| ENST00000626313.1:n.154C>G | ||
| ENST00000626839.2:c.312C>G | ENSP00000486706.1:p.Phe104Leu | |
| ENST00000629241.2:c.312C>G | ENSP00000487142.1:p.Phe104Leu | |
| ENST00000629676.2:c.312C>G | ENSP00000486194.1:p.Phe104Leu | |
| NM_004518.4:c.312C>G | NP_004509.2:p.Phe104Leu | |
| NM_172106.1:c.312C>G | NP_742104.1:p.Phe104Leu | |
| NM_172107.2:c.312C>G | NP_742105.1:p.Phe104Leu | |
| NM_172108.3:c.312C>G | NP_742106.1:p.Phe104Leu | |
| NM_172109.1:c.312C>G | NP_742107.1:p.Phe104Leu | |
| XM_006723787.1:c.312C>G | XP_006723850.1:p.Phe104Leu | |
| XM_011528807.1:c.312C>G | XP_011527109.1:p.Phe104Leu | |
| XM_011528808.1:c.312C>G | XP_011527110.1:p.Phe104Leu | |
| XM_011528809.1:c.312C>G | XP_011527111.1:p.Phe104Leu | |
| XM_011528810.1:c.312C>G | XP_011527112.1:p.Phe104Leu | |
| XM_011528811.1:c.312C>G | XP_011527113.1:p.Phe104Leu | |
| XM_011528812.1:c.312C>G | XP_011527114.1:p.Phe104Leu | |
| XM_011528813.1:c.312C>G | XP_011527115.1:p.Phe104Leu | |
| XM_011528815.1:c.312C>G | XP_011527117.1:p.Phe104Leu | |
| XM_011528816.1:c.312C>G | XP_011527118.1:p.Phe104Leu | |
| NM_004518.5:c.312C>G | NP_004509.2:p.Phe104Leu | |
| NM_172106.2:c.312C>G | NP_742104.1:p.Phe104Leu | |
| NM_172107.3:c.312C>G | NP_742105.1:p.Phe104Leu | |
| NM_172108.4:c.312C>G | NP_742106.1:p.Phe104Leu | |
| NM_172109.2:c.312C>G | NP_742107.1:p.Phe104Leu | |
| XM_011528810.2:c.312C>G | XP_011527112.1:p.Phe104Leu | |
| XM_011528811.2:c.312C>G | XP_011527113.1:p.Phe104Leu | |
| XM_017027841.2:c.312C>G | XP_016883330.1:p.Phe104Leu | |
| XM_017027842.2:c.312C>G | XP_016883331.1:p.Phe104Leu | |
| XM_017027843.1:c.243C>G | XP_016883332.1:p.Phe81Leu | |
| XM_017027844.2:c.312C>G | XP_016883333.1:p.Phe104Leu | |
| NM_004518.6:c.312C>G | NP_004509.2:p.Phe104Leu | |
| NM_172106.3:c.312C>G | NP_742104.1:p.Phe104Leu | |
| NM_172107.4:c.312C>G MANE Select | NP_742105.1:p.Phe104Leu | |
| NM_172108.5:c.312C>G | NP_742106.1:p.Phe104Leu | |
| NM_172109.3:c.312C>G | NP_742107.1:p.Phe104Leu | |
| NM_001382235.1:c.312C>G | NP_001369164.1:p.Phe104Leu |