Linked Data
ClinVar Variation Id:
385724
dbSNP Id:
rs142825776
ExAC:
17:4910587 C / T
gnomAD v2:
17-4910587-C-T
gnomAD v3:
17-5007292-C-T
gnomAD v4:
17-5007292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5007292C>T , CM000679.2:g.5007292C>T | GRCh38 |
| NC_000017.10:g.4910587C>T , CM000679.1:g.4910587C>T | GRCh37 |
| NC_000017.9:g.4851311C>T | NCBI36 |
| NG_034137.1:g.14345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.1365C>T MANE Select | ENSP00000320821.5:p.Asn455= | |
| ENST00000320785.9:c.1365C>T | ENSP00000320821.5:p.Asn455= | |
| NM_006612.5:c.1365C>T | NP_006603.2:p.Asn455= | |
| XM_005256424.1:c.1365C>T | XP_005256481.1:p.Asn455= | |
| XM_005256424.2:c.1365C>T | XP_005256481.1:p.Asn455= | |
| NM_006612.6:c.1365C>T MANE Select | NP_006603.2:p.Asn455= |