Linked Data
ClinVar Variation Id:
2049754
ClinVar RCV Id:
RCV002937255
dbSNP Id:
rs1424563764
gnomAD v2:
12-121435405-G-A
gnomAD v4:
12-120997602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997602G>A , CM000674.2:g.120997602G>A | GRCh38 |
| NC_000012.11:g.121435405G>A , CM000674.1:g.121435405G>A | GRCh37 |
| NC_000012.10:g.119919788G>A | NCBI36 |
| NG_011731.2:g.23857G>A , LRG_522:g.23857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*185G>A | ENSP00000453965.2:n.*185G>A | |
| ENST00000257555.11:c.1438G>A MANE Select | ENSP00000257555.5:p.Val480Met | |
| ENST00000257555.10:c.1438G>A | ENSP00000257555.4:p.Val480Met | |
| ENST00000400024.6:c.1438G>A | ENSP00000476181.1:p.Val480Met | |
| ENST00000402929.5:n.2304G>A | ||
| ENST00000535955.5:n.154G>A | ||
| ENST00000538626.2:n.302G>A | ||
| ENST00000538646.5:c.*414G>A | ENSP00000443964.1:n.*414G>A | |
| ENST00000540108.1:c.*878G>A | ENSP00000445445.1:n.*878G>A | |
| ENST00000541395.5:c.1438G>A | ENSP00000443112.1:p.Val480Met | |
| ENST00000541924.5:c.*452G>A | ENSP00000440361.1:n.*452G>A | |
| ENST00000543255.1:n.482G>A | ||
| ENST00000543427.5:c.901G>A | ENSP00000439721.2:p.Val301Met | |
| ENST00000544413.2:c.1438G>A | ENSP00000438804.1:p.Val480Met | |
| ENST00000544574.5:c.*201G>A | ENSP00000438565.1:n.*201G>A | |
| ENST00000560968.5:c.1255G>A | ||
| ENST00000615446.4:c.226G>A | ENSP00000483994.1:p.Val76Met | |
| ENST00000617366.4:c.587-32G>A | ENSP00000481967.1:n.587-32G>A | |
| NM_000545.5:c.1438G>A , LRG_522t1:c.1438G>A | NP_000536.5:p.Val480Met | |
| NM_000545.6:c.1438G>A | NP_000536.5:p.Val480Met | |
| NM_001306179.1:c.1438G>A | NP_001293108.1:p.Val480Met | |
| XM_005253931.2:c.1438G>A | XP_005253988.1:p.Val480Met | |
| XM_024449168.1:c.1438G>A | XP_024304936.1:p.Val480Met | |
| NM_000545.8:c.1438G>A MANE Select | NP_000536.6:p.Val480Met | |
| NM_001306179.2:c.1438G>A | NP_001293108.2:p.Val480Met |