Linked Data
ClinVar Variation Id:
2170623
ClinVar RCV Id:
RCV003080628
dbSNP Id:
rs1355265208
gnomAD v3:
10-49470552-G-A
gnomAD v4:
10-49470552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470552G>A , CM000672.2:g.49470552G>A | GRCh38 |
| NC_000010.10:g.50678598G>A , CM000672.1:g.50678598G>A | GRCh37 |
| NC_000010.9:g.50348604G>A | NCBI36 |
| NG_009442.1:g.73550C>T , LRG_465:g.73550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3408C>T MANE Select | ENSP00000348089.5:p.Gly1136= | |
| ENST00000679552.1:n.479C>T | ||
| ENST00000679871.1:n.554C>T | ||
| ENST00000679974.1:n.457C>T | ||
| ENST00000681632.1:n.4811C>T | ||
| ENST00000681659.1:c.3249C>T | ENSP00000505631.1:p.Gly1083= | |
| ENST00000355832.9:c.3408C>T | ENSP00000348089.5:p.Gly1136= | |
| ENST00000623073.3:c.*1704C>T | ENSP00000485650.1:n.*1704C>T | |
| ENST00000623115.3:c.1518C>T | ENSP00000485321.1:p.Gly506= | |
| ENST00000624341.3:c.1240C>T | ||
| NM_000124.3:c.3408C>T | NP_000115.1:p.Gly1136= | |
| XR_945953.1:n.243-1013G>A | ||
| NM_001346440.1:c.3408C>T | NP_001333369.1:p.Gly1136= | |
| NM_000124.4:c.3408C>T MANE Select | NP_000115.1:p.Gly1136= | |
| NM_001346440.2:c.3408C>T | NP_001333369.1:p.Gly1136= |