Linked Data
ClinVar Variation Id:
447484
dbSNP Id:
rs1168108747
gnomAD v2:
12-121437430-G-A
gnomAD v3:
12-120999627-G-A
gnomAD v4:
12-120999627-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999627G>A , CM000674.2:g.120999627G>A | GRCh38 |
| NC_000012.11:g.121437430G>A , CM000674.1:g.121437430G>A | GRCh37 |
| NC_000012.10:g.119921813G>A | NCBI36 |
| NG_011731.2:g.25882G>A , LRG_522:g.25882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*515G>A | ENSP00000453965.2:n.*515G>A | |
| ENST00000257555.11:c.1768G>A MANE Select | ENSP00000257555.5:p.Val590Met | |
| ENST00000257555.10:c.1768G>A | ENSP00000257555.4:p.Val590Met | |
| ENST00000540108.1:c.*1208G>A | ENSP00000445445.1:n.*1208G>A | |
| ENST00000541395.5:c.1861G>A | ENSP00000443112.1:p.Val621Met | |
| ENST00000543427.5:c.1231G>A | ENSP00000439721.2:p.Val411Met | |
| ENST00000544413.2:c.1789G>A | ENSP00000438804.1:p.Val597Met | |
| ENST00000560968.5:c.1585G>A | ||
| ENST00000615446.4:c.556G>A | ENSP00000483994.1:p.Val186Met | |
| ENST00000617366.4:c.*177G>A | ENSP00000481967.1:n.*177G>A | |
| NM_000545.5:c.1768G>A , LRG_522t1:c.1768G>A | NP_000536.5:p.Val590Met | |
| NM_000545.6:c.1768G>A | NP_000536.5:p.Val590Met | |
| NM_001306179.1:c.1789G>A | NP_001293108.1:p.Val597Met | |
| XM_005253931.2:c.1861G>A | XP_005253988.1:p.Val621Met | |
| XM_024449168.1:c.1861G>A | XP_024304936.1:p.Val621Met | |
| NM_000545.8:c.1768G>A MANE Select | NP_000536.6:p.Val590Met | |
| NM_001306179.2:c.1789G>A | NP_001293108.2:p.Val597Met |