Linked Data
ClinVar Variation Id:
402447
ClinVar RCV Id:
RCV000455710
dbSNP Id:
rs56054349
ExAC:
1:207269855 C / T
gnomAD v2:
1-207269855-C-T
gnomAD v3:
1-207096510-C-T
gnomAD v4:
1-207096510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207096510C>T , CM000663.2:g.207096510C>T | GRCh38 |
| NC_000001.10:g.207269855C>T , CM000663.1:g.207269855C>T | GRCh37 |
| NC_000001.9:g.205336478C>T | NCBI36 |
| NG_029386.1:g.12644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367078.8:c.410-12C>T MANE Select | ENSP00000356045.3:n.410-12C>T | |
| ENST00000243611.9:c.410-12C>T | ENSP00000243611.5:n.410-12C>T | |
| ENST00000367076.7:c.407-12C>T | ENSP00000356043.3:n.407-12C>T | |
| ENST00000367078.7:c.410-12C>T | ENSP00000356045.3:n.410-12C>T | |
| ENST00000391923.1:c.410-12C>T | ENSP00000375790.1:n.410-12C>T | |
| ENST00000452902.6:c.410-12C>T | ENSP00000392237.1:n.410-12C>T | |
| ENST00000469326.1:n.1577C>T | ||
| NM_000716.3:c.410-12C>T | NP_000707.1:n.410-12C>T | |
| NM_001017364.1:c.407-12C>T | NP_001017364.1:n.407-12C>T | |
| NM_001017365.1:c.410-12C>T | NP_001017365.1:n.410-12C>T | |
| NM_001017365.2:c.410-12C>T | NP_001017365.1:n.410-12C>T | |
| NM_001017366.1:c.407-12C>T | NP_001017366.1:n.407-12C>T | |
| NM_001017366.2:c.407-12C>T | NP_001017366.1:n.407-12C>T | |
| NM_001017367.1:c.410-12C>T | NP_001017367.1:n.410-12C>T | |
| XM_005273253.3:c.410-12C>T | XP_005273310.1:n.410-12C>T | |
| XM_005273254.3:c.410-12C>T | XP_005273311.1:n.410-12C>T | |
| XM_005273255.2:c.*942C>T | XP_005273312.1:n.*942C>T | |
| XM_005273254.5:c.410-12C>T | XP_005273311.1:n.410-12C>T | |
| XM_024449464.1:c.407-12C>T | XP_024305232.1:n.407-12C>T | |
| NM_001017365.3:c.410-12C>T MANE Select | NP_001017365.1:n.410-12C>T | |
| NM_001017366.3:c.407-12C>T | NP_001017366.1:n.407-12C>T |