Linked Data
ClinVar Variation Id:
285038
dbSNP Id:
rs145896974
ExAC:
14:21793459 C / T
gnomAD v2:
14-21793459-C-T
gnomAD v3:
14-21325300-C-T
gnomAD v4:
14-21325300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21325300C>T , CM000676.2:g.21325300C>T | GRCh38 |
| NC_000014.8:g.21793459C>T , CM000676.1:g.21793459C>T | GRCh37 |
| NC_000014.7:g.20863299C>T | NCBI36 |
| NG_008933.1:g.42324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2284C>T MANE Select | ENSP00000382895.2:p.Leu762= | |
| ENST00000382933.8:c.689-2323C>T | ENSP00000372391.4:n.689-2323C>T | |
| ENST00000400017.6:c.2284C>T | ENSP00000382895.2:p.Leu762= | |
| ENST00000553500.5:n.397C>T | ||
| ENST00000553927.1:n.1216C>T | ||
| ENST00000555322.5:c.711C>T | ||
| ENST00000555489.5:c.477C>T | ENSP00000451044.1:n.477C>T | |
| ENST00000555587.5:c.709C>T | ENSP00000451262.1:p.Leu237= | |
| ENST00000556336.5:c.1682-2323C>T | ENSP00000450445.1:n.1682-2323C>T | |
| ENST00000557771.5:c.2170C>T | ENSP00000451219.1:p.Leu724= | |
| NM_020366.3:c.2284C>T | NP_065099.3:p.Leu762= | |
| XM_005267879.2:c.1210C>T | XP_005267936.1:p.Leu404= | |
| XM_005267880.2:c.1177C>T | XP_005267937.1:p.Leu393= | |
| XM_005267881.2:c.658C>T | XP_005267938.1:p.Leu220= | |
| XM_011536978.1:c.1210C>T | XP_011535280.1:p.Leu404= | |
| XM_011536979.1:c.994C>T | XP_011535281.1:p.Leu332= | |
| XM_011536980.1:c.865C>T | XP_011535282.1:p.Leu289= | |
| XM_011536981.1:c.1141+230C>T | XP_011535283.1:n.1141+230C>T | |
| XM_011536982.1:c.796+575C>T | XP_011535284.1:n.796+575C>T | |
| XM_011536983.1:c.2251C>T | XP_011535285.1:p.Leu751= | |
| XM_005267881.3:c.658C>T | XP_005267938.1:p.Leu220= | |
| XM_017021473.1:c.1141+230C>T | XP_016876962.1:n.1141+230C>T | |
| XM_024449663.1:c.1210C>T | XP_024305431.1:p.Leu404= | |
| XM_024449664.1:c.1141+230C>T | XP_024305432.1:n.1141+230C>T | |
| XM_024449665.1:c.796+575C>T | XP_024305433.1:n.796+575C>T | |
| XM_024449666.1:c.796+575C>T | XP_024305434.1:n.796+575C>T | |
| NM_001377523.1:c.689-2323C>T | NP_001364452.1:n.689-2323C>T | |
| NM_001377948.1:c.1210C>T | NP_001364877.1:p.Leu404= | |
| NM_001377949.1:c.796+575C>T | NP_001364878.1:n.796+575C>T | |
| NM_001377950.1:c.689-2323C>T | NP_001364879.1:n.689-2323C>T | |
| NM_001377951.1:c.191-2323C>T | NP_001364880.1:n.191-2323C>T | |
| NM_020366.4:c.2284C>T MANE Select | NP_065099.3:p.Leu762= |