Linked Data
ClinVar Variation Id:
1205
ClinVar RCV Id:
RCV000001264
dbSNP Id:
rs118204004
gnomAD v4:
10-80275054-A-G
PubMed:
PMID:7560086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275054A>G , CM000672.2:g.80275054A>G | GRCh38 |
| NC_000010.10:g.82034810A>G , CM000672.1:g.82034810A>G | GRCh37 |
| NC_000010.9:g.82024790A>G | NCBI36 |
| NG_008083.1:g.19625T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.914T>C MANE Select | ENSP00000361287.3:p.Leu305Pro | |
| ENST00000372213.7:c.914T>C | ENSP00000361287.3:p.Leu305Pro | |
| ENST00000480845.1:n.146T>C | ||
| ENST00000485270.5:n.426T>C | ||
| NM_000429.2:c.914T>C | NP_000420.1:p.Leu305Pro | |
| XM_005269842.3:c.914T>C | XP_005269899.1:p.Leu305Pro | |
| XM_005269843.3:c.791T>C | XP_005269900.1:p.Leu264Pro | |
| NM_000429.3:c.914T>C MANE Select | NP_000420.1:p.Leu305Pro |