Linked Data
ClinVar Variation Id:
435082
dbSNP Id:
rs772801089
ExAC:
10:50680423 G / A
gnomAD v2:
10-50680423-G-A
gnomAD v4:
10-49472377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49472377G>A , CM000672.2:g.49472377G>A | GRCh38 |
| NC_000010.10:g.50680423G>A , CM000672.1:g.50680423G>A | GRCh37 |
| NC_000010.9:g.50350429G>A | NCBI36 |
| NG_009442.1:g.71725C>T , LRG_465:g.71725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2923C>T MANE Select | ENSP00000348089.5:p.Arg975Ter | |
| ENST00000681632.1:n.4326C>T | ||
| ENST00000681659.1:c.2764C>T | ENSP00000505631.1:p.Arg922Ter | |
| ENST00000355832.9:c.2923C>T | ENSP00000348089.5:p.Arg975Ter | |
| ENST00000623073.3:c.*1219C>T | ENSP00000485650.1:n.*1219C>T | |
| ENST00000623115.3:c.1033C>T | ENSP00000485321.1:p.Arg345Ter | |
| ENST00000624341.3:c.755C>T | ||
| NM_000124.3:c.2923C>T | NP_000115.1:p.Arg975Ter | |
| XR_945953.1:n.690-326G>A | ||
| NM_001346440.1:c.2923C>T | NP_001333369.1:p.Arg975Ter | |
| NM_000124.4:c.2923C>T MANE Select | NP_000115.1:p.Arg975Ter | |
| NM_001346440.2:c.2923C>T | NP_001333369.1:p.Arg975Ter |