Linked Data
ClinVar Variation Id:
2640452
ClinVar RCV Id:
RCV003417366
dbSNP Id:
rs1851206628
gnomAD v4:
10-49493176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493176A>G , CM000672.2:g.49493176A>G | GRCh38 |
| NC_000010.10:g.50701222A>G , CM000672.1:g.50701222A>G | GRCh37 |
| NC_000010.9:g.50371228A>G | NCBI36 |
| NG_009442.1:g.50926T>C , LRG_465:g.50926T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1762T>C MANE Select | ENSP00000348089.5:p.Trp588Arg | |
| ENST00000681632.1:n.1840T>C | ||
| ENST00000681659.1:c.1603T>C | ENSP00000505631.1:p.Trp535Arg | |
| ENST00000355832.9:c.1762T>C | ENSP00000348089.5:p.Trp588Arg | |
| ENST00000475116.1:n.275+7362T>C | ||
| ENST00000623073.3:c.163T>C | ENSP00000485650.1:p.Trp55Arg | |
| ENST00000623115.3:c.-70+7362T>C | ENSP00000485321.1:n.-70+7362T>C | |
| ENST00000623318.1:c.163T>C | ENSP00000485423.1:p.Trp55Arg | |
| NM_000124.3:c.1762T>C | NP_000115.1:p.Trp588Arg | |
| NM_001346440.1:c.1762T>C | NP_001333369.1:p.Trp588Arg | |
| NM_000124.4:c.1762T>C MANE Select | NP_000115.1:p.Trp588Arg | |
| NM_001346440.2:c.1762T>C | NP_001333369.1:p.Trp588Arg |