Linked Data
dbSNP Id:
rs770086063
gnomAD v2:
3-140799217-C-T
gnomAD v3:
3-141080375-C-T
gnomAD v4:
3-141080375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.141080375C>T , CM000665.2:g.141080375C>T | GRCh38 |
| NC_000003.11:g.140799217C>T , CM000665.1:g.140799217C>T | GRCh37 |
| NC_000003.10:g.142281907C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310546.3:c.694+13577C>T MANE Select | ENSP00000311609.2:n.694+13577C>T | |
| ENST00000310546.2:c.694+13577C>T | ENSP00000311609.2:n.694+13577C>T | |
| ENST00000507895.1:n.224C>T | ||
| ENST00000508126.1:c.161+13577C>T | ||
| NM_080862.2:c.694+13577C>T | NP_543138.1:n.694+13577C>T | |
| XM_011513313.1:c.694+13577C>T | XP_011511615.1:n.694+13577C>T | |
| XR_924215.1:n.1514C>T | ||
| XR_924216.1:n.1514C>T | ||
| XM_017007509.2:c.*78C>T | XP_016862998.1:n.*78C>T | |
| XR_924215.3:n.995C>T | ||
| XR_924216.3:n.995C>T | ||
| NM_080862.3:c.694+13577C>T MANE Select | NP_543138.1:n.694+13577C>T |