Linked Data
ClinVar Variation Id:
2910325
ClinVar RCV Id:
RCV003734640
dbSNP Id:
rs759953471
ExAC:
4:155665670 C / T
gnomAD v2:
4-155665670-C-T
gnomAD v3:
4-154744518-C-T
gnomAD v4:
4-154744518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744518C>T , CM000666.2:g.154744518C>T | GRCh38 |
| NC_000004.11:g.155665670C>T , CM000666.1:g.155665670C>T | GRCh37 |
| NC_000004.10:g.155885120C>T | NCBI36 |
| NG_009110.1:g.5508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.192C>T MANE Select | ENSP00000337224.3:p.Tyr64= | |
| ENST00000336356.3:c.192C>T | ENSP00000337224.3:p.Tyr64= | |
| ENST00000499392.1:n.472-3671C>T | ||
| ENST00000502525.5:c.192C>T | ENSP00000422324.1:p.Tyr64= | |
| ENST00000507827.5:c.192C>T | ENSP00000426761.1:p.Tyr64= | |
| ENST00000510733.1:n.519C>T | ||
| NM_001301645.1:c.192C>T | NP_001288574.1:p.Tyr64= | |
| NM_004744.4:c.192C>T | NP_004735.2:p.Tyr64= | |
| XM_006714412.2:c.192C>T | XP_006714475.1:p.Tyr64= | |
| XR_938793.1:n.528C>T | ||
| XR_938793.2:n.524C>T | ||
| NM_004744.5:c.192C>T MANE Select | NP_004735.2:p.Tyr64= | |
| NM_001301645.2:c.192C>T | NP_001288574.1:p.Tyr64= |