Linked Data
ClinVar Variation Id:
336992
ClinVar RCV Id:
RCV000276362
dbSNP Id:
rs760241473
ExAC:
2:73118716 C / T
gnomAD v2:
2-73118716-C-T
gnomAD v3:
2-72891587-C-T
gnomAD v4:
2-72891587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891587C>T , CM000664.2:g.72891587C>T | GRCh38 |
| NC_000002.11:g.73118716C>T , CM000664.1:g.73118716C>T | GRCh37 |
| NC_000002.10:g.72972224C>T | NCBI36 |
| NG_008234.1:g.9205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*50C>T MANE Select | ENSP00000234454.5:n.*50C>T | |
| ENST00000234454.5:c.*50C>T | ENSP00000234454.5:n.*50C>T | |
| ENST00000498749.1:n.781C>T | ||
| NM_003124.4:c.*50C>T | NP_003115.1:n.*50C>T | |
| NM_003124.5:c.*50C>T MANE Select | NP_003115.1:n.*50C>T |