Linked Data
ClinVar Variation Id:
1331857
ClinVar RCV Id:
RCV001804373
dbSNP Id:
rs1461201950
gnomAD v2:
1-55525293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059620G>A , CM000663.2:g.55059620G>A | GRCh38 |
| NC_000001.10:g.55525293G>A , CM000663.1:g.55525293G>A | GRCh37 |
| NC_000001.9:g.55297881G>A | NCBI36 |
| NG_009061.1:g.25074G>A , LRG_275:g.25074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1638G>A | ENSP00000501161.2:p.Met546Ile | |
| ENST00000710286.1:c.1995G>A | ENSP00000518176.1:p.Met665Ile | |
| ENST00000673903.1:c.1263G>A | ENSP00000501257.1:p.Met421Ile | |
| ENST00000673913.1:c.378G>A | ENSP00000501161.1:p.Met126Ile | |
| ENST00000302118.5:c.1638G>A MANE Select | ENSP00000303208.5:p.Met546Ile | |
| ENST00000490692.1:n.2227+973G>A | ||
| NM_174936.3:c.1638G>A , LRG_275t1:c.1638G>A | NP_777596.2:p.Met546Ile | |
| NR_110451.1:n.1245G>A | ||
| XM_011541193.1:c.759G>A | XP_011539495.1:p.Met253Ile | |
| NM_174936.4:c.1638G>A MANE Select | NP_777596.2:p.Met546Ile | |
| NR_110451.2:n.1245G>A |