Linked Data
ClinVar Variation Id:
512409
ClinVar RCV Id:
RCV000600595
dbSNP Id:
rs1177909067
gnomAD v3:
12-98593760-C-T
gnomAD v4:
12-98593760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98593760C>T , CM000674.2:g.98593760C>T | GRCh38 |
| NC_000012.11:g.98987538C>T , CM000674.1:g.98987538C>T | GRCh37 |
| NC_000012.10:g.97511669C>T | NCBI36 |
| NG_011702.1:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228318.8:c.-5+20C>T MANE Plus Clinical | ENSP00000228318.3:n.-5+20C>T | |
| ENST00000552981.6:c.-5+20C>T MANE Select | ENSP00000448708.2:n.-5+20C>T | |
| ENST00000188376.9:c.-219C>T | ENSP00000188376.5:n.-219C>T | |
| ENST00000228318.7:c.-5+20C>T | ENSP00000228318.3:n.-5+20C>T | |
| ENST00000401722.7:c.-1+20C>T | ENSP00000383898.3:n.-1+20C>T | |
| ENST00000546766.5:n.86+20C>T | ||
| ENST00000547534.5:c.-5+20C>T | ENSP00000449793.1:n.-5+20C>T | |
| ENST00000548046.5:c.-5+20C>T | ENSP00000447339.1:n.-5+20C>T | |
| ENST00000548847.1:c.-219C>T | ENSP00000449166.1:n.-219C>T | |
| ENST00000549338.5:c.-5+16C>T | ENSP00000447740.1:n.-5+16C>T | |
| ENST00000550695.1:c.-219C>T | ENSP00000449479.1:n.-219C>T | |
| ENST00000551123.5:c.-1+20C>T | ENSP00000449009.1:n.-1+20C>T | |
| ENST00000551265.5:c.-1+20C>T | ENSP00000448969.1:n.-1+20C>T | |
| ENST00000551917.5:c.-1+20C>T | ENSP00000447310.1:n.-1+20C>T | |
| ENST00000552981.5:c.-5+20C>T | ENSP00000448708.1:n.-5+20C>T | |
| NM_002635.3:c.-5+20C>T | NP_002626.1:n.-5+20C>T | |
| NM_005888.3:c.-5+20C>T | NP_005879.1:n.-5+20C>T | |
| NM_213611.2:c.-219C>T | NP_998776.1:n.-219C>T | |
| NM_002635.4:c.-5+20C>T MANE Select | NP_002626.1:n.-5+20C>T | |
| NM_213611.3:c.-219C>T | NP_998776.1:n.-219C>T | |
| NM_005888.4:c.-5+20C>T MANE Plus Clinical | NP_005879.1:n.-5+20C>T |