Linked Data
ClinVar Variation Id:
203614
ClinVar RCV Id:
RCV000634853
dbSNP Id:
rs796051925
gnomAD v4:
7-66087345-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087345C>T , CM000669.2:g.66087345C>T | GRCh38 |
| NC_000007.13:g.65552332C>T , CM000669.1:g.65552332C>T | GRCh37 |
| NC_000007.12:g.65189767C>T | NCBI36 |
| NG_009288.1:g.16557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.614C>T MANE Select | ENSP00000307188.9:p.Ala205Val | |
| ENST00000362000.10:c.419C>T | ENSP00000354710.6:p.Ala140Val | |
| ENST00000380839.9:c.536C>T | ENSP00000370219.4:p.Ala179Val | |
| ENST00000395331.4:c.614C>T | ENSP00000378740.3:p.Ala205Val | |
| ENST00000395332.8:c.614C>T | ENSP00000378741.3:p.Ala205Val | |
| ENST00000671817.1:c.536C>T | ENSP00000500462.1:p.Ala179Val | |
| ENST00000672498.1:c.447-384C>T | ENSP00000500227.1:n.447-384C>T | |
| ENST00000672586.1:n.1031C>T | ||
| ENST00000672676.1:n.1296C>T | ||
| ENST00000673149.1:n.426C>T | ||
| ENST00000673350.1:n.1374C>T | ||
| ENST00000673518.1:c.536C>T | ENSP00000499889.1:p.Ala179Val | |
| ENST00000673594.1:n.463C>T | ||
| ENST00000304874.13:c.614C>T | ENSP00000307188.9:p.Ala205Val | |
| ENST00000362000.9:c.419C>T | ENSP00000354710.5:p.Ala140Val | |
| ENST00000380839.8:c.536C>T | ENSP00000370219.4:p.Ala179Val | |
| ENST00000395331.3:c.614C>T | ENSP00000378740.3:p.Ala205Val | |
| ENST00000395332.7:c.614C>T | ENSP00000378741.3:p.Ala205Val | |
| NM_000048.3:c.614C>T | NP_000039.2:p.Ala205Val | |
| NM_001024943.1:c.614C>T | NP_001020114.1:p.Ala205Val | |
| NM_001024944.1:c.614C>T | NP_001020115.1:p.Ala205Val | |
| NM_001024946.1:c.536C>T | NP_001020117.1:p.Ala179Val | |
| NM_000048.4:c.614C>T MANE Select | NP_000039.2:p.Ala205Val | |
| NM_001024943.2:c.614C>T | NP_001020114.1:p.Ala205Val | |
| NM_001024944.2:c.614C>T | NP_001020115.1:p.Ala205Val | |
| NM_001024946.2:c.536C>T | NP_001020117.1:p.Ala179Val |