Linked Data
ClinVar Variation Id:
259645
dbSNP Id:
rs4681
ExAC:
4:155490832 C / T
gnomAD v2:
4-155490832-C-T
gnomAD v3:
4-154569680-C-T
gnomAD v4:
4-154569680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569680C>T , CM000666.2:g.154569680C>T | GRCh38 |
| NC_000004.11:g.155490832C>T , CM000666.1:g.155490832C>T | GRCh37 |
| NC_000004.10:g.155710282C>T | NCBI36 |
| NG_008833.1:g.11701C>T , LRG_558:g.11701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1125C>T MANE Select | ENSP00000306099.4:p.Tyr375= | |
| ENST00000302068.8:c.1125C>T | ENSP00000306099.4:p.Tyr375= | |
| ENST00000502545.5:n.939+373C>T | ||
| ENST00000509493.1:c.468C>T | ENSP00000426757.1:p.Tyr156= | |
| NM_001184741.1:c.948C>T | NP_001171670.1:p.Tyr316= | |
| NM_005141.4:c.1125C>T , LRG_558t1:c.1125C>T | NP_005132.2:p.Tyr375= | |
| NM_001382759.1:c.993C>T | NP_001369688.1:p.Tyr331= | |
| NM_001382760.1:c.1125C>T | NP_001369689.1:p.Tyr375= | |
| NM_001382761.1:c.1125C>T | NP_001369690.1:p.Tyr375= | |
| NM_001382762.1:c.825C>T | NP_001369691.1:p.Tyr275= | |
| NM_001382763.1:c.1116C>T | NP_001369692.1:p.Tyr372= | |
| NM_001382764.1:c.1080+45C>T | NP_001369693.1:n.1080+45C>T | |
| NM_001382765.1:c.1125C>T | NP_001369694.1:p.Tyr375= | |
| NM_005141.5:c.1125C>T MANE Select | NP_005132.2:p.Tyr375= |