Linked Data
dbSNP Id:
rs375832562
ExAC:
20:62038643 T / C
gnomAD v2:
20-62038643-T-C
gnomAD v3:
20-63407290-T-C
gnomAD v4:
20-63407290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407290T>C , CM000682.2:g.63407290T>C | GRCh38 |
| NC_000020.10:g.62038643T>C , CM000682.1:g.62038643T>C | GRCh37 |
| NC_000020.9:g.61509087T>C | NCBI36 |
| NG_009004.1:g.70351A>G | |
| NG_009004.2:g.70351A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2027A>G | ENSP00000516702.1:p.Tyr676Cys | |
| ENST00000359125.7:c.1973A>G MANE Select | ENSP00000352035.2:p.Tyr658Cys | |
| ENST00000637193.1:c.1370A>G | ENSP00000490734.1:p.Tyr457Cys | |
| ENST00000344462.8:c.1880A>G | ENSP00000339611.4:p.Tyr627Cys | |
| ENST00000357249.6:c.1541A>G | ENSP00000349789.3:p.Tyr514Cys | |
| ENST00000359125.6:c.1973A>G | ENSP00000352035.2:p.Tyr658Cys | |
| ENST00000360480.7:c.1889A>G | ENSP00000353668.3:p.Tyr630Cys | |
| ENST00000370224.5:c.1997A>G | ENSP00000359244.2:p.Tyr666Cys | |
| ENST00000625514.2:c.1961A>G | ENSP00000486040.1:p.Tyr654Cys | |
| ENST00000626839.2:c.1919A>G | ENSP00000486706.1:p.Tyr640Cys | |
| ENST00000629241.2:c.1889A>G | ENSP00000487142.1:p.Tyr630Cys | |
| ENST00000629676.2:c.1679+6160A>G | ENSP00000486194.1:n.1679+6160A>G | |
| NM_004518.4:c.1889A>G | NP_004509.2:p.Tyr630Cys | |
| NM_172106.1:c.1919A>G | NP_742104.1:p.Tyr640Cys | |
| NM_172107.2:c.1973A>G | NP_742105.1:p.Tyr658Cys | |
| NM_172108.3:c.1880A>G | NP_742106.1:p.Tyr627Cys | |
| XM_006723787.1:c.2015A>G | XP_006723850.1:p.Tyr672Cys | |
| XM_011528807.1:c.2081A>G | XP_011527109.1:p.Tyr694Cys | |
| XM_011528808.1:c.2078A>G | XP_011527110.1:p.Tyr693Cys | |
| XM_011528809.1:c.2051A>G | XP_011527111.1:p.Tyr684Cys | |
| XM_011528810.1:c.2027A>G | XP_011527112.1:p.Tyr676Cys | |
| XM_011528811.1:c.1997A>G | XP_011527113.1:p.Tyr666Cys | |
| XM_011528812.1:c.1970A>G | XP_011527114.1:p.Tyr657Cys | |
| XM_011528813.1:c.1955A>G | XP_011527115.1:p.Tyr652Cys | |
| XM_011528814.1:c.1562A>G | XP_011527116.1:p.Tyr521Cys | |
| NM_004518.5:c.1889A>G | NP_004509.2:p.Tyr630Cys | |
| NM_172106.2:c.1919A>G | NP_742104.1:p.Tyr640Cys | |
| NM_172107.3:c.1973A>G | NP_742105.1:p.Tyr658Cys | |
| NM_172108.4:c.1880A>G | NP_742106.1:p.Tyr627Cys | |
| XM_011528810.2:c.2027A>G | XP_011527112.1:p.Tyr676Cys | |
| XM_011528811.2:c.1997A>G | XP_011527113.1:p.Tyr666Cys | |
| XM_017027841.2:c.2024A>G | XP_016883330.1:p.Tyr675Cys | |
| XM_017027842.2:c.1961A>G | XP_016883331.1:p.Tyr654Cys | |
| XM_017027843.1:c.1958A>G | XP_016883332.1:p.Tyr653Cys | |
| XM_017027844.2:c.1916A>G | XP_016883333.1:p.Tyr639Cys | |
| XM_017027845.1:c.989A>G | XP_016883334.1:p.Tyr330Cys | |
| NM_004518.6:c.1889A>G | NP_004509.2:p.Tyr630Cys | |
| NM_172106.3:c.1919A>G | NP_742104.1:p.Tyr640Cys | |
| NM_172107.4:c.1973A>G MANE Select | NP_742105.1:p.Tyr658Cys | |
| NM_172108.5:c.1880A>G | NP_742106.1:p.Tyr627Cys | |
| NM_001382235.1:c.2027A>G | NP_001369164.1:p.Tyr676Cys |