Linked Data
ClinVar Variation Id:
1799859
ClinVar RCV Id:
RCV004066562
dbSNP Id:
rs1032041433
gnomAD v4:
12-57511842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511842G>A , CM000674.2:g.57511842G>A | GRCh38 |
| NC_000012.11:g.57905625G>A , CM000674.1:g.57905625G>A | GRCh37 |
| NC_000012.10:g.56191892G>A | NCBI36 |
| NG_034077.1:g.28890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1513G>A MANE Select | ENSP00000262027.5:p.Val505Ile | |
| ENST00000262027.9:c.1513G>A | ENSP00000262027.5:p.Val505Ile | |
| ENST00000447721.6:n.1155G>A | ||
| ENST00000537638.6:c.1513G>A | ENSP00000446168.2:p.Val505Ile | |
| ENST00000545888.6:c.*1014G>A | ENSP00000439307.2:n.*1014G>A | |
| ENST00000546971.5:n.257G>A | ||
| ENST00000548630.1:n.74G>A | ||
| ENST00000548944.1:c.134-4653G>A | ENSP00000449071.1:n.134-4653G>A | |
| ENST00000549048.1:n.46G>A | ||
| ENST00000628866.2:c.*1014G>A | ENSP00000486738.1:n.*1014G>A | |
| NM_004990.3:c.1513G>A | NP_004981.2:p.Val505Ile | |
| XM_006719398.2:c.811G>A | XP_006719461.1:p.Val271Ile | |
| XM_011538353.1:c.1513G>A | XP_011536655.1:p.Val505Ile | |
| XM_006719398.4:c.811G>A | XP_006719461.1:p.Val271Ile | |
| XR_001748704.2:n.1536G>A | ||
| XR_002957327.1:n.1460G>A | ||
| NM_004990.4:c.1513G>A MANE Select | NP_004981.2:p.Val505Ile |