Linked Data
ClinVar Variation Id:
1195165
ClinVar RCV Id:
RCV001558146
dbSNP Id:
rs1881789009
gnomAD v4:
14-28767584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767584T>C , CM000676.2:g.28767584T>C | GRCh38 |
| NC_000014.8:g.29236790T>C , CM000676.1:g.29236790T>C | GRCh37 |
| NC_000014.7:g.28306541T>C | NCBI36 |
| NG_009367.1:g.5504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.305T>C | ENSP00000516406.1:p.Leu102Pro | |
| ENST00000313071.7:c.305T>C MANE Select | ENSP00000339004.3:p.Leu102Pro | |
| ENST00000313071.6:c.305T>C | ENSP00000339004.3:p.Leu102Pro | |
| NM_005249.4:c.305T>C | NP_005240.3:p.Leu102Pro | |
| NM_005249.5:c.305T>C MANE Select | NP_005240.3:p.Leu102Pro |