Linked Data
ClinVar Variation Id:
1382721
ClinVar RCV Id:
RCV001890499
dbSNP Id:
rs373738626
gnomAD v4:
1-23817544-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23817544T>A , CM000663.2:g.23817544T>A | GRCh38 |
| NC_000001.10:g.24144034T>A , CM000663.1:g.24144034T>A | GRCh37 |
| NC_000001.9:g.24016621T>A | NCBI36 |
| NG_013061.1:g.12916A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.184A>T MANE Select | ENSP00000363614.3:p.Met62Leu | |
| ENST00000235958.4:c.131+2966A>T | ||
| ENST00000374487.6:c.*225A>T | ENSP00000363611.2:n.*225A>T | |
| ENST00000374490.7:c.184A>T | ENSP00000363614.3:p.Met62Leu | |
| ENST00000436439.6:c.184A>T | ENSP00000389281.2:p.Met62Leu | |
| ENST00000509389.5:n.196A>T | ||
| ENST00000513148.1:n.185A>T | ||
| NM_000191.2:c.184A>T | NP_000182.2:p.Met62Leu | |
| NM_001166059.1:c.184A>T | NP_001159531.1:p.Met62Leu | |
| NM_000191.3:c.184A>T MANE Select | NP_000182.2:p.Met62Leu | |
| NM_001166059.2:c.184A>T | NP_001159531.1:p.Met62Leu |