Linked Data
ClinVar Variation Id:
8017
dbSNP Id:
rs121909185
gnomAD v4:
16-2317661-A-G
PubMed:
PMID:17719949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317661A>G , CM000678.2:g.2317661A>G | GRCh38 |
| NC_000016.9:g.2367662A>G , CM000678.1:g.2367662A>G | GRCh37 |
| NC_000016.8:g.2307663A>G | NCBI36 |
| NG_011790.1:g.28086T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.977T>C MANE Select | ENSP00000301732.5:p.Leu326Pro | |
| ENST00000301732.9:c.977T>C | ENSP00000301732.5:p.Leu326Pro | |
| ENST00000382381.7:c.977T>C | ENSP00000371818.3:p.Leu326Pro | |
| ENST00000563623.5:n.1540T>C | ||
| NM_001089.2:c.977T>C | NP_001080.2:p.Leu326Pro | |
| NM_001089.3:c.977T>C MANE Select | NP_001080.2:p.Leu326Pro |