Linked Data
ClinVar Variation Id:
1192110
ClinVar RCV Id:
RCV001553448
dbSNP Id:
rs116687245
gnomAD v2:
1-120302411-G-T
gnomAD v3:
1-119759788-G-T
gnomAD v4:
1-119759788-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119759788G>T , CM000663.2:g.119759788G>T | GRCh38 |
| NC_000001.10:g.120302411G>T , CM000663.1:g.120302411G>T | GRCh37 |
| NC_000001.9:g.120103934G>T | NCBI36 |
| NG_013348.1:g.14145C>A , LRG_447:g.14145C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.685+76C>A MANE Select | ENSP00000358414.3:n.685+76C>A | |
| ENST00000369406.7:c.685+76C>A | ENSP00000358414.3:n.685+76C>A | |
| ENST00000476640.1:n.581+76C>A | ||
| ENST00000544913.2:c.560-506C>A | ENSP00000439495.2:n.560-506C>A | |
| NM_001166107.1:c.560-506C>A , LRG_447t2:c.560-506C>A | NP_001159579.1:n.560-506C>A | |
| NM_005518.3:c.685+76C>A , LRG_447t1:c.685+76C>A | NP_005509.1:n.685+76C>A | |
| XM_011541313.1:c.685+76C>A | XP_011539615.1:n.685+76C>A | |
| XM_011541313.2:c.685+76C>A | XP_011539615.1:n.685+76C>A | |
| NM_005518.4:c.685+76C>A MANE Select | NP_005509.1:n.685+76C>A |