Linked Data
ClinVar Variation Id:
283795
dbSNP Id:
rs147586703
ExAC:
14:21790154 C / T
gnomAD v2:
14-21790154-C-T
gnomAD v3:
14-21321995-C-T
gnomAD v4:
14-21321995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21321995C>T , CM000676.2:g.21321995C>T | GRCh38 |
| NC_000014.8:g.21790154C>T , CM000676.1:g.21790154C>T | GRCh37 |
| NC_000014.7:g.20859994C>T | NCBI36 |
| NG_008933.1:g.39019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1753C>T MANE Select | ENSP00000382895.2:p.Pro585Ser | |
| ENST00000382933.8:c.679C>T | ENSP00000372391.4:p.Pro227Ser | |
| ENST00000400017.6:c.1753C>T | ENSP00000382895.2:p.Pro585Ser | |
| ENST00000553500.5:n.211C>T | ||
| ENST00000554303.1:c.148+24C>T | ENSP00000450426.1:n.148+24C>T | |
| ENST00000555322.5:c.287C>T | ||
| ENST00000555489.5:c.55+24C>T | ENSP00000451044.1:n.55+24C>T | |
| ENST00000555587.5:c.178C>T | ENSP00000451262.1:p.Pro60Ser | |
| ENST00000556336.5:c.1672C>T | ENSP00000450445.1:p.Pro558Ser | |
| ENST00000557771.5:c.1648+24C>T | ENSP00000451219.1:n.1648+24C>T | |
| NM_020366.3:c.1753C>T | NP_065099.3:p.Pro585Ser | |
| XM_005267879.2:c.679C>T | XP_005267936.1:p.Pro227Ser | |
| XM_005267880.2:c.655+24C>T | XP_005267937.1:n.655+24C>T | |
| XM_005267881.2:c.127C>T | XP_005267938.1:p.Pro43Ser | |
| XM_011536978.1:c.679C>T | XP_011535280.1:p.Pro227Ser | |
| XM_011536979.1:c.679C>T | XP_011535281.1:p.Pro227Ser | |
| XM_011536980.1:c.679C>T | XP_011535282.1:p.Pro227Ser | |
| XM_011536981.1:c.679C>T | XP_011535283.1:p.Pro227Ser | |
| XM_011536982.1:c.679C>T | XP_011535284.1:p.Pro227Ser | |
| XM_011536983.1:c.1720C>T | XP_011535285.1:p.Pro574Ser | |
| XM_005267881.3:c.127C>T | XP_005267938.1:p.Pro43Ser | |
| XM_017021473.1:c.679C>T | XP_016876962.1:p.Pro227Ser | |
| XM_024449663.1:c.679C>T | XP_024305431.1:p.Pro227Ser | |
| XM_024449664.1:c.679C>T | XP_024305432.1:p.Pro227Ser | |
| XM_024449665.1:c.679C>T | XP_024305433.1:p.Pro227Ser | |
| XM_024449666.1:c.679C>T | XP_024305434.1:p.Pro227Ser | |
| NM_001377523.1:c.679C>T | NP_001364452.1:p.Pro227Ser | |
| NM_001377948.1:c.679C>T | NP_001364877.1:p.Pro227Ser | |
| NM_001377949.1:c.679C>T | NP_001364878.1:p.Pro227Ser | |
| NM_001377950.1:c.679C>T | NP_001364879.1:p.Pro227Ser | |
| NM_001377951.1:c.181C>T | NP_001364880.1:p.Pro61Ser | |
| NM_020366.4:c.1753C>T MANE Select | NP_065099.3:p.Pro585Ser |