Linked Data
ClinVar Variation Id:
43911
dbSNP Id:
rs200248944
ExAC:
1:236911044 C / T
gnomAD v2:
1-236911044-C-T
gnomAD v3:
1-236747744-C-T
gnomAD v4:
1-236747744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236747744C>T , CM000663.2:g.236747744C>T | GRCh38 |
| NC_000001.10:g.236911044C>T , CM000663.1:g.236911044C>T | GRCh37 |
| NC_000001.9:g.234977667C>T | NCBI36 |
| NG_009081.1:g.66275C>T | |
| NG_009081.2:g.88604C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.1484C>T | ENSP00000443495.1:p.Thr495Met | |
| ENST00000492634.7:n.1414C>T | ||
| ENST00000682015.1:c.1391C>T | ENSP00000506961.1:p.Thr464Met | |
| ENST00000682692.1:n.1231C>T | ||
| ENST00000682966.1:n.7125C>T | ||
| ENST00000683111.1:c.*770C>T | ENSP00000507913.1:n.*770C>T | |
| ENST00000683322.1:n.2836C>T | ||
| ENST00000684050.1:n.4122C>T | ||
| ENST00000684286.1:n.3039C>T | ||
| ENST00000684502.1:n.1433C>T | ||
| ENST00000366578.6:c.1484C>T MANE Select | ENSP00000355537.4:p.Thr495Met | |
| ENST00000492634.6:n.1414C>T | ||
| ENST00000542672.6:c.1484C>T | ENSP00000443495.1:p.Thr495Met | |
| ENST00000651091.1:c.1174C>T | ENSP00000498677.1:n.1174C>T | |
| ENST00000651275.1:c.1376C>T | ENSP00000498926.1:p.Thr459Met | |
| ENST00000651781.1:c.564C>T | ||
| ENST00000651786.1:c.*856C>T | ENSP00000498364.1:n.*856C>T | |
| ENST00000652096.1:c.*889C>T | ENSP00000498896.1:n.*889C>T | |
| ENST00000366578.5:c.1484C>T | ENSP00000355537.4:p.Thr495Met | |
| ENST00000492101.1:n.45C>T | ||
| ENST00000542672.5:c.1484C>T | ENSP00000443495.1:p.Thr495Met | |
| ENST00000546208.5:c.860C>T | ENSP00000438384.2:p.Thr287Met | |
| NM_001103.3:c.1484C>T | NP_001094.1:p.Thr495Met | |
| NM_001278343.1:c.1484C>T | NP_001265272.1:p.Thr495Met | |
| NM_001278344.1:c.860C>T | NP_001265273.1:p.Thr287Met | |
| NM_001278343.2:c.1484C>T | NP_001265272.1:p.Thr495Met | |
| NM_001103.4:c.1484C>T MANE Select | NP_001094.1:p.Thr495Met | |
| NM_001278344.2:c.860C>T | NP_001265273.1:p.Thr287Met |