Linked Data
ClinVar Variation Id:
312793
dbSNP Id:
rs188318743
ExAC:
14:21793509 T / C
gnomAD v2:
14-21793509-T-C
gnomAD v3:
14-21325350-T-C
gnomAD v4:
14-21325350-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21325350T>C , CM000676.2:g.21325350T>C | GRCh38 |
| NC_000014.8:g.21793509T>C , CM000676.1:g.21793509T>C | GRCh37 |
| NC_000014.7:g.20863349T>C | NCBI36 |
| NG_008933.1:g.42374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2334T>C MANE Select | ENSP00000382895.2:p.Asp778= | |
| ENST00000382933.8:c.689-2273T>C | ENSP00000372391.4:n.689-2273T>C | |
| ENST00000400017.6:c.2334T>C | ENSP00000382895.2:p.Asp778= | |
| ENST00000553500.5:n.447T>C | ||
| ENST00000553927.1:n.1266T>C | ||
| ENST00000555322.5:c.761T>C | ||
| ENST00000555489.5:c.527T>C | ENSP00000451044.1:n.527T>C | |
| ENST00000555587.5:c.759T>C | ENSP00000451262.1:p.Asp253= | |
| ENST00000556336.5:c.1682-2273T>C | ENSP00000450445.1:n.1682-2273T>C | |
| ENST00000557771.5:c.2220T>C | ENSP00000451219.1:p.Asp740= | |
| NM_020366.3:c.2334T>C | NP_065099.3:p.Asp778= | |
| XM_005267879.2:c.1260T>C | XP_005267936.1:p.Asp420= | |
| XM_005267880.2:c.1227T>C | XP_005267937.1:p.Asp409= | |
| XM_005267881.2:c.708T>C | XP_005267938.1:p.Asp236= | |
| XM_011536978.1:c.1260T>C | XP_011535280.1:p.Asp420= | |
| XM_011536979.1:c.1044T>C | XP_011535281.1:p.Asp348= | |
| XM_011536980.1:c.915T>C | XP_011535282.1:p.Asp305= | |
| XM_011536981.1:c.1141+280T>C | XP_011535283.1:n.1141+280T>C | |
| XM_011536982.1:c.796+625T>C | XP_011535284.1:n.796+625T>C | |
| XM_011536983.1:c.2301T>C | XP_011535285.1:p.Asp767= | |
| XM_005267881.3:c.708T>C | XP_005267938.1:p.Asp236= | |
| XM_017021473.1:c.1141+280T>C | XP_016876962.1:n.1141+280T>C | |
| XM_024449663.1:c.1260T>C | XP_024305431.1:p.Asp420= | |
| XM_024449664.1:c.1141+280T>C | XP_024305432.1:n.1141+280T>C | |
| XM_024449665.1:c.796+625T>C | XP_024305433.1:n.796+625T>C | |
| XM_024449666.1:c.796+625T>C | XP_024305434.1:n.796+625T>C | |
| NM_001377523.1:c.689-2273T>C | NP_001364452.1:n.689-2273T>C | |
| NM_001377948.1:c.1260T>C | NP_001364877.1:p.Asp420= | |
| NM_001377949.1:c.796+625T>C | NP_001364878.1:n.796+625T>C | |
| NM_001377950.1:c.689-2273T>C | NP_001364879.1:n.689-2273T>C | |
| NM_001377951.1:c.191-2273T>C | NP_001364880.1:n.191-2273T>C | |
| NM_020366.4:c.2334T>C MANE Select | NP_065099.3:p.Asp778= |