Linked Data
ClinVar Variation Id:
348883
dbSNP Id:
rs886059439
gnomAD v2:
4-52899815-G-T
gnomAD v4:
4-52033649-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033649G>T , CM000666.2:g.52033649G>T | GRCh38 |
| NC_000004.11:g.52899815G>T , CM000666.1:g.52899815G>T | GRCh37 |
| NC_000004.10:g.52594572G>T | NCBI36 |
| NG_008891.1:g.9671C>A , LRG_204:g.9671C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.34-9C>A MANE Select | ENSP00000370839.6:n.34-9C>A | |
| ENST00000381431.9:c.34-9C>A | ENSP00000370839.5:n.34-9C>A | |
| ENST00000506357.5:c.20-9C>A | ||
| NM_000232.4:c.34-9C>A , LRG_204t1:c.34-9C>A | NP_000223.1:n.34-9C>A | |
| XM_011534403.1:c.34-3786C>A | XP_011532705.1:n.34-3786C>A | |
| NM_000232.5:c.34-9C>A MANE Select | NP_000223.1:n.34-9C>A |