Linked Data
ClinVar Variation Id:
1376427
dbSNP Id:
rs1355806826
gnomAD v2:
4-41747954-C-T
gnomAD v4:
4-41745937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745937C>T , CM000666.2:g.41745937C>T | GRCh38 |
| NC_000004.11:g.41747954C>T , CM000666.1:g.41747954C>T | GRCh37 |
| NC_000004.10:g.41442711C>T | NCBI36 |
| NG_008243.1:g.8034G>A , LRG_513:g.8034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.815G>A MANE Select | ENSP00000226382.2:p.Gly272Asp | |
| ENST00000226382.3:c.815G>A | ENSP00000226382.2:p.Gly272Asp | |
| NM_003924.3:c.815G>A , LRG_513t1:c.815G>A | NP_003915.2:p.Gly272Asp | |
| NM_003924.4:c.815G>A MANE Select | NP_003915.2:p.Gly272Asp |