Linked Data
ClinVar Variation Id:
876901
ClinVar RCV Id:
RCV001102181
dbSNP Id:
rs373180437
ExAC:
1:197091636 A / T
gnomAD v2:
1-197091636-A-T
gnomAD v3:
1-197122506-A-T
gnomAD v4:
1-197122506-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197122506A>T , CM000663.2:g.197122506A>T | GRCh38 |
| NC_000001.10:g.197091636A>T , CM000663.1:g.197091636A>T | GRCh37 |
| NC_000001.9:g.195358259A>T | NCBI36 |
| NG_015867.1:g.29189T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.1522T>A | ||
| ENST00000367409.9:c.3480T>A MANE Select | ENSP00000356379.4:p.Ala1160= | |
| ENST00000680112.1:n.1536T>A | ||
| ENST00000680265.1:c.3480T>A | ENSP00000505384.1:p.Ala1160= | |
| ENST00000680710.1:c.3480T>A | ENSP00000506676.1:p.Ala1160= | |
| ENST00000681879.1:c.3480T>A | ENSP00000505363.1:p.Ala1160= | |
| ENST00000294732.11:c.3480T>A | ENSP00000294732.7:p.Ala1160= | |
| ENST00000367408.5:c.1230T>A | ENSP00000356378.1:p.Ala410= | |
| ENST00000367409.8:c.3480T>A | ENSP00000356379.4:p.Ala1160= | |
| ENST00000612785.1:c.562-19859T>A | ENSP00000479244.1:n.562-19859T>A | |
| NM_001206846.1:c.3480T>A | NP_001193775.1:p.Ala1160= | |
| NM_018136.4:c.3480T>A | NP_060606.3:p.Ala1160= | |
| NM_018136.5:c.3480T>A MANE Select | NP_060606.3:p.Ala1160= | |
| NM_001206846.2:c.3480T>A | NP_001193775.1:p.Ala1160= |