Linked Data
ClinVar Variation Id:
2763048
ClinVar RCV Id:
RCV003564938
dbSNP Id:
rs35084417
ExAC:
18:47101836 G / T
gnomAD v2:
18-47101836-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49575466G>T , CM000680.2:g.49575466G>T | GRCh38 |
| NC_000018.9:g.47101836G>T , CM000680.1:g.47101836G>T | GRCh37 |
| NC_000018.8:g.45355834G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.669G>T MANE Select | ENSP00000261292.4:p.Thr223= | |
| ENST00000261292.8:c.669G>T | ENSP00000261292.4:p.Thr223= | |
| ENST00000427224.6:c.571+5918G>T | ENSP00000387978.2:n.571+5918G>T | |
| ENST00000577628.5:c.777G>T | ENSP00000463835.1:p.Thr259= | |
| ENST00000580036.5:c.669G>T | ENSP00000462420.1:p.Thr223= | |
| NM_001308006.1:c.571+5918G>T | NP_001294935.1:n.571+5918G>T | |
| NM_006033.2:c.669G>T | NP_006024.1:p.Thr223= | |
| NM_006033.3:c.669G>T | NP_006024.1:p.Thr223= | |
| XM_005258390.1:c.777G>T | XP_005258447.1:p.Thr259= | |
| XM_011526265.1:c.679+5918G>T | XP_011524567.1:n.679+5918G>T | |
| XM_011526267.1:c.429G>T | XP_011524569.1:p.Thr143= | |
| XM_011526265.3:c.679+5918G>T | XP_011524567.1:n.679+5918G>T | |
| XM_017026095.1:c.78G>T | XP_016881584.1:p.Thr26= | |
| NM_006033.4:c.669G>T MANE Select | NP_006024.1:p.Thr223= | |
| NM_001308006.2:c.571+5918G>T | NP_001294935.1:n.571+5918G>T |