Linked Data
ClinVar Variation Id:
501219
dbSNP Id:
rs1429786931
gnomAD v2:
14-21794176-C-T
gnomAD v3:
14-21326017-C-T
gnomAD v4:
14-21326017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21326017C>T , CM000676.2:g.21326017C>T | GRCh38 |
| NC_000014.8:g.21794176C>T , CM000676.1:g.21794176C>T | GRCh37 |
| NC_000014.7:g.20864016C>T | NCBI36 |
| NG_008933.1:g.43041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2554C>T MANE Select | ENSP00000382895.2:p.Arg852Ter | |
| ENST00000382933.8:c.689-1606C>T | ENSP00000372391.4:n.689-1606C>T | |
| ENST00000400017.6:c.2554C>T | ENSP00000382895.2:p.Arg852Ter | |
| ENST00000553927.1:n.1486C>T | ||
| ENST00000555322.5:c.981C>T | ||
| ENST00000555489.5:c.747C>T | ENSP00000451044.1:n.747C>T | |
| ENST00000555587.5:c.979C>T | ENSP00000451262.1:p.Arg327Ter | |
| ENST00000556336.5:c.1682-1606C>T | ENSP00000450445.1:n.1682-1606C>T | |
| ENST00000557771.5:c.2440C>T | ENSP00000451219.1:p.Arg814Ter | |
| NM_020366.3:c.2554C>T | NP_065099.3:p.Arg852Ter | |
| XM_005267879.2:c.1480C>T | XP_005267936.1:p.Arg494Ter | |
| XM_005267880.2:c.1447C>T | XP_005267937.1:p.Arg483Ter | |
| XM_005267881.2:c.928C>T | XP_005267938.1:p.Arg310Ter | |
| XM_011536978.1:c.1480C>T | XP_011535280.1:p.Arg494Ter | |
| XM_011536979.1:c.1264C>T | XP_011535281.1:p.Arg422Ter | |
| XM_011536980.1:c.1135C>T | XP_011535282.1:p.Arg379Ter | |
| XM_011536981.1:c.1141+947C>T | XP_011535283.1:n.1141+947C>T | |
| XM_011536982.1:c.796+1292C>T | XP_011535284.1:n.796+1292C>T | |
| XM_011536983.1:c.2521C>T | XP_011535285.1:p.Arg841Ter | |
| XM_005267881.3:c.928C>T | XP_005267938.1:p.Arg310Ter | |
| XM_017021473.1:c.1141+947C>T | XP_016876962.1:n.1141+947C>T | |
| XM_024449663.1:c.1480C>T | XP_024305431.1:p.Arg494Ter | |
| XM_024449664.1:c.1141+947C>T | XP_024305432.1:n.1141+947C>T | |
| XM_024449665.1:c.796+1292C>T | XP_024305433.1:n.796+1292C>T | |
| XM_024449666.1:c.796+1292C>T | XP_024305434.1:n.796+1292C>T | |
| NM_001377523.1:c.689-1606C>T | NP_001364452.1:n.689-1606C>T | |
| NM_001377948.1:c.1480C>T | NP_001364877.1:p.Arg494Ter | |
| NM_001377949.1:c.796+1292C>T | NP_001364878.1:n.796+1292C>T | |
| NM_001377950.1:c.689-1606C>T | NP_001364879.1:n.689-1606C>T | |
| NM_001377951.1:c.191-1606C>T | NP_001364880.1:n.191-1606C>T | |
| NM_020366.4:c.2554C>T MANE Select | NP_065099.3:p.Arg852Ter |