Linked Data
ClinVar Variation Id:
325758
dbSNP Id:
rs74000393
gnomAD v2:
17-78073839-C-T
gnomAD v3:
17-80100040-C-T
gnomAD v4:
17-80100040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80100040C>T , CM000679.2:g.80100040C>T | GRCh38 |
| NC_000017.10:g.78073839C>T , CM000679.1:g.78073839C>T | GRCh37 |
| NC_000017.9:g.75688434C>T | NCBI36 |
| NG_009822.1:g.3485C>T , LRG_673:g.3485C>T | |
| NG_029761.1:g.68409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.*265C>T MANE Select | ENSP00000380679.4:n.*265C>T | |
| ENST00000397545.8:c.*265C>T | ENSP00000380679.4:n.*265C>T | |
| ENST00000574799.5:n.3231C>T | ||
| NM_017950.3:c.*265C>T | NP_060420.2:n.*265C>T | |
| XM_011524963.1:c.*265C>T | XP_011523265.1:n.*265C>T | |
| XM_011524964.1:c.*265C>T | XP_011523266.1:n.*265C>T | |
| XM_011524963.3:c.*265C>T | XP_011523265.1:n.*265C>T | |
| XM_011524964.3:c.*265C>T | XP_011523266.1:n.*265C>T | |
| XM_024450821.1:c.*265C>T | XP_024306589.1:n.*265C>T | |
| XR_934495.2:n.3812C>T | ||
| NM_017950.4:c.*265C>T MANE Select | NP_060420.2:n.*265C>T |