Linked Data
ClinVar Variation Id:
3030269
ClinVar RCV Id:
RCV004531889
dbSNP Id:
rs762410741
ExAC:
17:54671885 C / T
gnomAD v2:
17-54671885-C-T
gnomAD v3:
17-56594524-C-T
gnomAD v4:
17-56594524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594524C>T , CM000679.2:g.56594524C>T | GRCh38 |
| NC_000017.10:g.54671885C>T , CM000679.1:g.54671885C>T | GRCh37 |
| NC_000017.9:g.52026884C>T | NCBI36 |
| NG_011958.1:g.5826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.301C>T MANE Select | ENSP00000328181.4:p.Leu101= | |
| ENST00000332822.4:c.301C>T | ENSP00000328181.4:p.Leu101= | |
| NM_005450.4:c.301C>T | NP_005441.1:p.Leu101= | |
| NM_005450.6:c.301C>T MANE Select | NP_005441.1:p.Leu101= |