Linked Data
ClinVar Variation Id:
589923
ClinVar RCV Id:
RCV002317631
dbSNP Id:
rs1568861472
gnomAD v3:
20-63407187-G-A
gnomAD v4:
20-63407187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407187G>A , CM000682.2:g.63407187G>A | GRCh38 |
| NC_000020.10:g.62038540G>A , CM000682.1:g.62038540G>A | GRCh37 |
| NC_000020.9:g.61508984G>A | NCBI36 |
| NG_009004.1:g.70454C>T | |
| NG_009004.2:g.70454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2130C>T | ENSP00000516702.1:p.Ser710= | |
| ENST00000359125.7:c.2076C>T MANE Select | ENSP00000352035.2:p.Ser692= | |
| ENST00000637193.1:c.1473C>T | ENSP00000490734.1:p.Ser491= | |
| ENST00000344462.8:c.1983C>T | ENSP00000339611.4:p.Ser661= | |
| ENST00000357249.6:c.1644C>T | ENSP00000349789.3:p.Ser548= | |
| ENST00000359125.6:c.2076C>T | ENSP00000352035.2:p.Ser692= | |
| ENST00000360480.7:c.1992C>T | ENSP00000353668.3:p.Ser664= | |
| ENST00000370224.5:c.2100C>T | ENSP00000359244.2:p.Ser700= | |
| ENST00000625514.2:c.2064C>T | ENSP00000486040.1:p.Ser688= | |
| ENST00000626839.2:c.2022C>T | ENSP00000486706.1:p.Ser674= | |
| ENST00000629241.2:c.1992C>T | ENSP00000487142.1:p.Ser664= | |
| ENST00000629676.2:c.1679+6263C>T | ENSP00000486194.1:n.1679+6263C>T | |
| NM_004518.4:c.1992C>T | NP_004509.2:p.Ser664= | |
| NM_172106.1:c.2022C>T | NP_742104.1:p.Ser674= | |
| NM_172107.2:c.2076C>T | NP_742105.1:p.Ser692= | |
| NM_172108.3:c.1983C>T | NP_742106.1:p.Ser661= | |
| XM_006723787.1:c.2118C>T | XP_006723850.1:p.Ser706= | |
| XM_011528807.1:c.2184C>T | XP_011527109.1:p.Ser728= | |
| XM_011528808.1:c.2181C>T | XP_011527110.1:p.Ser727= | |
| XM_011528809.1:c.2154C>T | XP_011527111.1:p.Ser718= | |
| XM_011528810.1:c.2130C>T | XP_011527112.1:p.Ser710= | |
| XM_011528811.1:c.2100C>T | XP_011527113.1:p.Ser700= | |
| XM_011528812.1:c.2073C>T | XP_011527114.1:p.Ser691= | |
| XM_011528813.1:c.2058C>T | XP_011527115.1:p.Ser686= | |
| XM_011528814.1:c.1665C>T | XP_011527116.1:p.Ser555= | |
| NM_004518.5:c.1992C>T | NP_004509.2:p.Ser664= | |
| NM_172106.2:c.2022C>T | NP_742104.1:p.Ser674= | |
| NM_172107.3:c.2076C>T | NP_742105.1:p.Ser692= | |
| NM_172108.4:c.1983C>T | NP_742106.1:p.Ser661= | |
| XM_011528810.2:c.2130C>T | XP_011527112.1:p.Ser710= | |
| XM_011528811.2:c.2100C>T | XP_011527113.1:p.Ser700= | |
| XM_017027841.2:c.2127C>T | XP_016883330.1:p.Ser709= | |
| XM_017027842.2:c.2064C>T | XP_016883331.1:p.Ser688= | |
| XM_017027843.1:c.2061C>T | XP_016883332.1:p.Ser687= | |
| XM_017027844.2:c.2019C>T | XP_016883333.1:p.Ser673= | |
| XM_017027845.1:c.1092C>T | XP_016883334.1:p.Ser364= | |
| NM_004518.6:c.1992C>T | NP_004509.2:p.Ser664= | |
| NM_172106.3:c.2022C>T | NP_742104.1:p.Ser674= | |
| NM_172107.4:c.2076C>T MANE Select | NP_742105.1:p.Ser692= | |
| NM_172108.5:c.1983C>T | NP_742106.1:p.Ser661= | |
| NM_001382235.1:c.2130C>T | NP_001369164.1:p.Ser710= |