Linked Data
ClinVar Variation Id:
418239
ClinVar RCV Id:
RCV000479840
dbSNP Id:
rs1064793142
gnomAD v3:
12-21546418-T-A
gnomAD v4:
12-21546418-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21546418T>A , CM000674.2:g.21546418T>A | GRCh38 |
| NC_000012.11:g.21699352T>A , CM000674.1:g.21699352T>A | GRCh37 |
| NC_000012.10:g.21590619T>A | NCBI36 |
| NG_016167.1:g.63430A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1475A>T MANE Select | ENSP00000261195.2:p.Asp492Val | |
| ENST00000647960.1:c.*1477A>T | ENSP00000497202.1:n.*1477A>T | |
| ENST00000261195.2:c.1475A>T | ENSP00000261195.2:p.Asp492Val | |
| NM_021957.3:c.1475A>T | NP_068776.2:p.Asp492Val | |
| XM_005253352.1:c.1475A>T | XP_005253409.1:p.Asp492Val | |
| XM_005253354.2:c.1256A>T | XP_005253411.1:p.Asp419Val | |
| XM_006719062.2:c.1475A>T | XP_006719125.1:p.Asp492Val | |
| XM_006719063.2:c.1244A>T | XP_006719126.1:p.Asp415Val | |
| NM_021957.4:c.1475A>T MANE Select | NP_068776.2:p.Asp492Val | |
| XM_006719063.3:c.1244A>T | XP_006719126.1:p.Asp415Val | |
| XM_024448960.1:c.1475A>T | XP_024304728.1:p.Asp492Val |