Linked Data
ClinVar Variation Id:
2931069
ClinVar RCV Id:
RCV003782331
dbSNP Id:
rs1578263746
gnomAD v4:
3-52451416-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451416G>T , CM000665.2:g.52451416G>T | GRCh38 |
| NC_000003.11:g.52485432G>T , CM000665.1:g.52485432G>T | GRCh37 |
| NC_000003.10:g.52460472G>T | NCBI36 |
| NG_008963.1:g.7626C>A , LRG_378:g.7626C>A | |
| NG_033112.1:g.909G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.429C>A MANE Select | ENSP00000232975.3:p.Asn143Lys | |
| ENST00000232975.7:c.429C>A | ENSP00000232975.3:p.Asn143Lys | |
| ENST00000496590.1:c.297C>A | ENSP00000420596.1:p.Asn99Lys | |
| NM_003280.2:c.429C>A , LRG_378t1:c.429C>A | NP_003271.1:p.Asn143Lys | |
| NM_003280.3:c.429C>A MANE Select | NP_003271.1:p.Asn143Lys |