Linked Data
ClinVar Variation Id:
2354
ClinVar RCV Id:
RCV000002448
dbSNP Id:
rs121912598
ExAC:
1:216538300 A / C
gnomAD v2:
1-216538300-A-C
gnomAD v4:
1-216364958-A-C
PubMed:
PMID:10729113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216364958A>C , CM000663.2:g.216364958A>C | GRCh38 |
| NC_000001.10:g.216538300A>C , CM000663.1:g.216538300A>C | GRCh37 |
| NC_000001.9:g.214604923A>C | NCBI36 |
| NG_009497.1:g.63439T>G | |
| NG_009497.2:g.63491T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.779T>G MANE Select | ENSP00000305941.3:p.Leu260Ter | |
| ENST00000674083.1:c.779T>G | ENSP00000501296.1:p.Leu260Ter | |
| ENST00000307340.7:c.779T>G | ENSP00000305941.3:p.Leu260Ter | |
| ENST00000366942.3:c.779T>G | ENSP00000355909.3:p.Leu260Ter | |
| NM_007123.5:c.779T>G | NP_009054.5:p.Leu260Ter | |
| NM_206933.2:c.779T>G | NP_996816.2:p.Leu260Ter | |
| NM_206933.3:c.779T>G | NP_996816.2:p.Leu260Ter | |
| NM_007123.6:c.779T>G | NP_009054.6:p.Leu260Ter | |
| NM_206933.4:c.779T>G MANE Select | NP_996816.3:p.Leu260Ter |