Linked Data
ClinVar Variation Id:
3540
ClinVar RCV Id:
RCV000003718
dbSNP Id:
rs121434290
gnomAD v4:
8-144415966-G-T
PubMed:
PMID:12032886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144415966G>T , CM000670.2:g.144415966G>T | GRCh38 |
| NC_000008.10:g.145641350G>T , CM000670.1:g.145641350G>T | GRCh37 |
| NC_000008.9:g.145612158G>T | NCBI36 |
| NG_012234.2:g.5925C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.318C>A MANE Select | ENSP00000301305.4:p.Asn106Lys | |
| ENST00000276833.9:c.243C>A | ENSP00000276833.5:p.Asn81Lys | |
| ENST00000301305.7:c.318C>A | ENSP00000301305.3:p.Asn106Lys | |
| ENST00000526658.1:c.193-547C>A | ENSP00000434512.1:n.193-547C>A | |
| NM_017767.2:c.243C>A | NP_060237.2:p.Asn81Lys | |
| NM_130849.3:c.318C>A | NP_570901.2:p.Asn106Lys | |
| XM_006716599.1:c.318C>A | XP_006716662.1:p.Asn106Lys | |
| XM_011517153.1:c.193-547C>A | XP_011515455.1:n.193-547C>A | |
| XM_024447188.1:c.193-547C>A | XP_024302956.1:n.193-547C>A | |
| XM_024447189.1:c.193-547C>A | XP_024302957.1:n.193-547C>A | |
| NM_001374839.1:c.193-547C>A | NP_001361768.1:n.193-547C>A | |
| NM_017767.3:c.243C>A | NP_060237.3:p.Asn81Lys | |
| NM_130849.4:c.318C>A MANE Select | NP_570901.3:p.Asn106Lys |