Linked Data
ClinVar Variation Id:
208625
dbSNP Id:
rs797045113
gnomAD v4:
1-216175474-G-A
PubMed:
PMID:15241801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216175474G>A , CM000663.2:g.216175474G>A | GRCh38 |
| NC_000001.10:g.216348816G>A , CM000663.1:g.216348816G>A | GRCh37 |
| NC_000001.9:g.214415439G>A | NCBI36 |
| NG_009497.1:g.252923C>T | |
| NG_009497.2:g.252975C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.4405C>T MANE Select | ENSP00000305941.3:p.Gln1469Ter | |
| ENST00000674083.1:c.4405C>T | ENSP00000501296.1:p.Gln1469Ter | |
| ENST00000307340.7:c.4405C>T | ENSP00000305941.3:p.Gln1469Ter | |
| ENST00000366942.3:c.4405C>T | ENSP00000355909.3:p.Gln1469Ter | |
| NM_007123.5:c.4405C>T | NP_009054.5:p.Gln1469Ter | |
| NM_206933.2:c.4405C>T | NP_996816.2:p.Gln1469Ter | |
| NM_206933.3:c.4405C>T | NP_996816.2:p.Gln1469Ter | |
| NM_007123.6:c.4405C>T | NP_009054.6:p.Gln1469Ter | |
| NM_206933.4:c.4405C>T MANE Select | NP_996816.3:p.Gln1469Ter |