Linked Data
ClinVar Variation Id:
2193108
ClinVar RCV Id:
RCV002623875
dbSNP Id:
rs765821387
ExAC:
1:197093403 G / T
gnomAD v2:
1-197093403-G-T
gnomAD v3:
1-197124273-G-T
gnomAD v4:
1-197124273-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197124273G>T , CM000663.2:g.197124273G>T | GRCh38 |
| NC_000001.10:g.197093403G>T , CM000663.1:g.197093403G>T | GRCh37 |
| NC_000001.9:g.195360026G>T | NCBI36 |
| NG_015867.1:g.27422C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1269C>A | ||
| ENST00000367409.9:c.3227C>A MANE Select | ENSP00000356379.4:p.Thr1076Lys | |
| ENST00000680112.1:n.1283C>A | ||
| ENST00000680265.1:c.3227C>A | ENSP00000505384.1:p.Thr1076Lys | |
| ENST00000680710.1:c.3227C>A | ENSP00000506676.1:p.Thr1076Lys | |
| ENST00000681879.1:c.3227C>A | ENSP00000505363.1:p.Thr1076Lys | |
| ENST00000294732.11:c.3227C>A | ENSP00000294732.7:p.Thr1076Lys | |
| ENST00000367408.5:c.977C>A | ENSP00000356378.1:p.Thr326Lys | |
| ENST00000367409.8:c.3227C>A | ENSP00000356379.4:p.Thr1076Lys | |
| ENST00000612785.1:c.561+19418C>A | ENSP00000479244.1:n.561+19418C>A | |
| NM_001206846.1:c.3227C>A | NP_001193775.1:p.Thr1076Lys | |
| NM_018136.4:c.3227C>A | NP_060606.3:p.Thr1076Lys | |
| NM_018136.5:c.3227C>A MANE Select | NP_060606.3:p.Thr1076Lys | |
| NM_001206846.2:c.3227C>A | NP_001193775.1:p.Thr1076Lys |