Linked Data
ClinVar Variation Id:
297458
ClinVar RCV Id:
RCV000302847
dbSNP Id:
rs886046364
gnomAD v4:
1-45012265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45012265C>T , CM000663.2:g.45012265C>T | GRCh38 |
| NC_000001.10:g.45477937C>T , CM000663.1:g.45477937C>T | GRCh37 |
| NC_000001.9:g.45250524C>T | NCBI36 |
| NG_007122.2:g.5108C>T | |
| NG_033058.1:g.4091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.-1C>T MANE Select | ENSP00000246337.4:n.-1C>T | |
| ENST00000434478.6:c.-1C>T | ENSP00000404489.2:n.-1C>T | |
| ENST00000491773.6:c.-156C>T | ENSP00000498551.1:n.-156C>T | |
| ENST00000636293.1:c.-1C>T | ENSP00000490710.1:n.-1C>T | |
| ENST00000636836.1:c.-1C>T | ENSP00000490594.1:n.-1C>T | |
| ENST00000650713.1:c.-86+180C>T | ENSP00000499014.1:n.-86+180C>T | |
| ENST00000651476.1:c.-156C>T | ENSP00000498668.1:n.-156C>T | |
| ENST00000652165.1:c.-136+180C>T | ENSP00000498295.1:n.-136+180C>T | |
| ENST00000652287.1:c.-1C>T | ENSP00000498413.1:n.-1C>T | |
| ENST00000246337.8:c.-1C>T | ENSP00000246337.4:n.-1C>T | |
| ENST00000434478.5:c.-1C>T | ENSP00000404489.1:n.-1C>T | |
| ENST00000460334.5:n.8C>T | ||
| ENST00000461035.5:n.54C>T | ||
| ENST00000462688.5:n.1C>T | ||
| ENST00000463092.5:n.81C>T | ||
| ENST00000491300.5:n.50C>T | ||
| ENST00000491773.5:n.104C>T | ||
| ENST00000494399.5:n.14C>T | ||
| NM_000374.4:c.-1C>T | NP_000365.3:n.-1C>T | |
| NR_036510.1:n.133C>T | ||
| XM_005271169.1:c.-286C>T | XP_005271226.1:n.-286C>T | |
| XM_005271170.1:c.-236C>T | XP_005271227.1:n.-236C>T | |
| XM_011542080.1:c.-1C>T | XP_011540382.1:n.-1C>T | |
| XM_011542081.1:c.-156C>T | XP_011540383.1:n.-156C>T | |
| NM_000374.5:c.-1C>T MANE Select | NP_000365.3:n.-1C>T | |
| NR_158184.1:n.12C>T | ||
| NR_158185.1:n.12C>T | ||
| NR_036510.2:n.12C>T |