Linked Data
ClinVar Variation Id:
8718
ClinVar RCV Id:
RCV000009256
dbSNP Id:
rs104893871
ExAC:
4:52895974 A / T
gnomAD v4:
4-52029808-A-T
PubMed:
PMID:8968749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029808A>T , CM000666.2:g.52029808A>T | GRCh38 |
| NC_000004.11:g.52895974A>T , CM000666.1:g.52895974A>T | GRCh37 |
| NC_000004.10:g.52590731A>T | NCBI36 |
| NG_008891.1:g.13512T>A , LRG_204:g.13512T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.299T>A MANE Select | ENSP00000370839.6:p.Met100Lys | |
| ENST00000381431.9:c.299T>A | ENSP00000370839.5:p.Met100Lys | |
| ENST00000506357.5:c.382T>A | ||
| ENST00000514133.1:c.376T>A | ENSP00000425818.1:n.376T>A | |
| NM_000232.4:c.299T>A , LRG_204t1:c.299T>A | NP_000223.1:p.Met100Lys | |
| XM_006714049.2:c.2T>A | XP_006714112.1:p.Met1Lys | |
| XM_011534403.1:c.89T>A | XP_011532705.1:p.Met30Lys | |
| XM_011534404.1:c.2T>A | XP_011532706.1:p.Met1Lys | |
| NM_000232.5:c.299T>A MANE Select | NP_000223.1:p.Met100Lys |