Linked Data
ClinVar Variation Id:
466203
dbSNP Id:
rs41285476
ExAC:
14:67610127 T / C
gnomAD v2:
14-67610127-T-C
gnomAD v3:
14-67143410-T-C
gnomAD v4:
14-67143410-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67143410T>C , CM000676.2:g.67143410T>C | GRCh38 |
| NC_000014.8:g.67610127T>C , CM000676.1:g.67610127T>C | GRCh37 |
| NC_000014.7:g.66679880T>C | NCBI36 |
| NG_008875.1:g.641003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478722.6:c.1797T>C MANE Select | ENSP00000417901.1:p.Asp599= | |
| ENST00000315266.9:c.1698T>C | ENSP00000312771.5:p.Asp566= | |
| ENST00000478722.5:c.1797T>C | ENSP00000417901.1:p.Asp599= | |
| ENST00000543237.5:c.1836T>C | ENSP00000438404.1:p.Asp612= | |
| ENST00000544752.6:n.1845T>C | ||
| ENST00000555503.1:c.273T>C | ENSP00000452009.1:p.Asp91= | |
| ENST00000555527.1:n.330T>C | ||
| ENST00000557678.1:n.410T>C | ||
| NM_001024218.1:c.1698T>C | NP_001019389.1:p.Asp566= | |
| NM_020806.4:c.1797T>C | NP_065857.1:p.Asp599= | |
| XM_005267254.2:c.1755T>C | XP_005267311.1:p.Asp585= | |
| XM_011536340.1:c.1965T>C | XP_011534642.1:p.Asp655= | |
| XM_011536342.1:c.1926T>C | XP_011534644.1:p.Asp642= | |
| XM_011536343.1:c.1893T>C | XP_011534645.1:p.Asp631= | |
| XM_011536344.1:c.1866T>C | XP_011534646.1:p.Asp622= | |
| XM_011536345.1:c.1836T>C | XP_011534647.1:p.Asp612= | |
| XM_011536346.1:c.1827T>C | XP_011534648.1:p.Asp609= | |
| XM_011536347.1:c.1737T>C | XP_011534649.1:p.Asp579= | |
| XM_011536348.1:c.948T>C | XP_011534650.1:p.Asp316= | |
| XR_943947.1:n.213+10350A>G | ||
| XR_943948.1:n.883+10350A>G | ||
| XR_943949.1:n.214-2565A>G | ||
| XM_005267254.4:c.1755T>C | XP_005267311.1:p.Asp585= | |
| XM_011536340.3:c.1965T>C | XP_011534642.1:p.Asp655= | |
| XM_011536342.3:c.1926T>C | XP_011534644.1:p.Asp642= | |
| XM_011536343.3:c.1893T>C | XP_011534645.1:p.Asp631= | |
| XM_011536344.3:c.1866T>C | XP_011534646.1:p.Asp622= | |
| XM_011536345.3:c.1836T>C | XP_011534647.1:p.Asp612= | |
| XM_011536346.3:c.1827T>C | XP_011534648.1:p.Asp609= | |
| XM_011536347.2:c.1737T>C | XP_011534649.1:p.Asp579= | |
| XM_017020913.2:c.1956T>C | XP_016876402.1:p.Asp652= | |
| XM_017020914.2:c.1908T>C | XP_016876403.1:p.Asp636= | |
| XM_017020915.2:c.1857T>C | XP_016876404.1:p.Asp619= | |
| XM_017020916.2:c.1818T>C | XP_016876405.1:p.Asp606= | |
| XM_017020917.2:c.1809T>C | XP_016876406.1:p.Asp603= | |
| XM_017020918.2:c.1794T>C | XP_016876407.1:p.Asp598= | |
| XM_017020919.2:c.1770T>C | XP_016876408.1:p.Asp590= | |
| XM_017020920.2:c.1656T>C | XP_016876409.1:p.Asp552= | |
| XM_017020921.1:c.1596T>C | XP_016876410.1:p.Asp532= | |
| XM_017020922.1:c.1596T>C | XP_016876411.1:p.Asp532= | |
| XM_017020923.1:c.1467T>C | XP_016876412.1:p.Asp489= | |
| XM_017020924.1:c.948T>C | XP_016876413.1:p.Asp316= | |
| XM_017020925.2:c.1312+84624T>C | XP_016876414.1:n.1312+84624T>C | |
| XM_017020926.1:c.876T>C | XP_016876415.1:p.Asp292= | |
| XR_001750989.2:n.3100+10350A>G | ||
| XR_001750990.1:n.176+10350A>G | ||
| NM_001377514.1:c.1857T>C | NP_001364443.1:p.Asp619= | |
| NM_001377515.1:c.1827T>C | NP_001364444.1:p.Asp609= | |
| NM_001377516.1:c.1818T>C | NP_001364445.1:p.Asp606= | |
| NM_001377517.1:c.1770T>C | NP_001364446.1:p.Asp590= | |
| NM_001377518.1:c.1755T>C | NP_001364447.1:p.Asp585= | |
| NM_001377519.1:c.1737T>C | NP_001364448.1:p.Asp579= | |
| NM_001024218.2:c.1698T>C | NP_001019389.1:p.Asp566= | |
| NM_020806.5:c.1797T>C MANE Select | NP_065857.1:p.Asp599= |