Linked Data
ClinVar Variation Id:
2527400
ClinVar RCV Id:
RCV004298738
dbSNP Id:
rs1325987699
gnomAD v2:
19-52249868-A-G
gnomAD v4:
19-51746615-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51746615A>G , CM000681.2:g.51746615A>G | GRCh38 |
| NC_000019.9:g.52249868A>G , CM000681.1:g.52249868A>G | GRCh37 |
| NC_000019.8:g.56941680A>G | NCBI36 |
| NG_023426.1:g.10283T>C , LRG_146:g.10283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.380T>C | ENSP00000470750.2:p.Val127Ala | |
| ENST00000600815.2:c.380T>C | ENSP00000472936.2:p.Val127Ala | |
| ENST00000304748.5:c.380T>C MANE Select | ENSP00000302707.3:p.Val127Ala | |
| ENST00000304748.4:c.380T>C | ENSP00000302707.3:p.Val127Ala | |
| ENST00000595042.5:c.380T>C | ENSP00000471493.1:p.Val127Ala | |
| ENST00000600815.1:c.380T>C | ENSP00000472936.1:p.Val127Ala | |
| NM_001193306.1:c.380T>C | NP_001180235.1:p.Val127Ala | |
| NM_002029.3:c.380T>C , LRG_146t1:c.380T>C | NP_002020.1:p.Val127Ala | |
| NM_001193306.2:c.380T>C | NP_001180235.1:p.Val127Ala | |
| NM_002029.4:c.380T>C MANE Select | NP_002020.1:p.Val127Ala |