Linked Data
ClinVar Variation Id:
2962006
ClinVar RCV Id:
RCV003822652
dbSNP Id:
rs1033010917
gnomAD v2:
12-85695073-C-T
gnomAD v3:
12-85301295-C-T
gnomAD v4:
12-85301295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85301295C>T , CM000674.2:g.85301295C>T | GRCh38 |
| NC_000012.11:g.85695073C>T , CM000674.1:g.85695073C>T | GRCh37 |
| NC_000012.10:g.84219204C>T | NCBI36 |
| NG_023202.1:g.26038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.801C>T MANE Select | ENSP00000315417.3:p.Asn267= | |
| ENST00000316824.3:c.801C>T | ENSP00000315417.3:p.Asn267= | |
| NM_006982.2:c.801C>T | NP_008913.2:p.Asn267= | |
| XM_005269165.3:c.801C>T | XP_005269222.1:p.Asn267= | |
| XM_011538782.1:c.516C>T | XP_011537084.1:p.Asn172= | |
| XM_011538783.1:c.516C>T | XP_011537085.1:p.Asn172= | |
| XM_011538782.2:c.516C>T | XP_011537084.1:p.Asn172= | |
| NM_006982.3:c.801C>T MANE Select | NP_008913.2:p.Asn267= |