Linked Data
ClinVar Variation Id:
15380
dbSNP Id:
rs33983276
gnomAD v4:
11-5225668-G-T
PubMed:
PMID:639985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225668G>T , CM000673.2:g.5225668G>T | GRCh38 |
| NC_000011.9:g.5246898G>T , CM000673.1:g.5246898G>T | GRCh37 |
| NC_000011.8:g.5203474G>T | NCBI36 |
| NG_000007.3:g.71948C>A | |
| NG_059281.1:g.6404C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.374C>A | ENSP00000494175.1:p.Pro125Gln | |
| ENST00000335295.4:c.374C>A MANE Select | ENSP00000333994.3:p.Pro125Gln | |
| ENST00000475226.1:n.306C>A | ||
| ENST00000633227.1:c.*190C>A | ENSP00000488004.1:n.*190C>A | |
| NM_000518.4:c.374C>A | NP_000509.1:p.Pro125Gln | |
| NM_000518.5:c.374C>A MANE Select | NP_000509.1:p.Pro125Gln |