Linked Data
ClinVar Variation Id:
2502225
ClinVar RCV Id:
RCV003228643
dbSNP Id:
rs751048376
gnomAD v2:
4-100521793-A-T
gnomAD v4:
4-99600636-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99600636A>T , CM000666.2:g.99600636A>T | GRCh38 |
| NC_000004.11:g.100521793A>T , CM000666.1:g.100521793A>T | GRCh37 |
| NC_000004.10:g.100740816A>T | NCBI36 |
| NG_011469.1:g.41554A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.1139A>T MANE Select | ENSP00000265517.5:p.Asp380Val | |
| ENST00000457717.6:c.1139A>T | ENSP00000400821.1:p.Asp380Val | |
| ENST00000511045.6:c.890A>T | ENSP00000427679.2:p.Asp297Val | |
| ENST00000265517.9:c.1139A>T | ENSP00000265517.5:p.Asp380Val | |
| ENST00000457717.5:c.1139A>T | ENSP00000400821.1:p.Asp380Val | |
| ENST00000511045.5:c.1220A>T | ENSP00000427679.1:p.Asp407Val | |
| ENST00000619629.1:c.1139A>T | ENSP00000482850.1:p.Asp380Val | |
| NM_000253.3:c.1139A>T | NP_000244.2:p.Asp380Val | |
| NM_001300785.1:c.1220A>T | NP_001287714.1:p.Asp407Val | |
| NM_000253.4:c.1139A>T | NP_000244.2:p.Asp380Val | |
| NM_001300785.2:c.890A>T | NP_001287714.2:p.Asp297Val | |
| NM_001386140.1:c.1139A>T MANE Select | NP_001373069.1:p.Asp380Val |