Linked Data
dbSNP Id:
rs13306401
gnomAD v2:
19-46174378-C-A
gnomAD v3:
19-45671120-C-A
gnomAD v4:
19-45671120-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45671120C>A , CM000681.2:g.45671120C>A | GRCh38 |
| NC_000019.9:g.46174378C>A , CM000681.1:g.46174378C>A | GRCh37 |
| NC_000019.8:g.50866218C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.173-165C>A MANE Select | ENSP00000467494.1:n.173-165C>A | |
| ENST00000652180.1:c.-82+386C>A | ENSP00000498426.1:n.-82+386C>A | |
| ENST00000263281.7:c.173-165C>A | ENSP00000263281.3:n.173-165C>A | |
| ENST00000304207.12:c.172+386C>A | ENSP00000305321.8:n.172+386C>A | |
| ENST00000585889.1:c.173-165C>A | ENSP00000467342.1:n.173-165C>A | |
| ENST00000590918.5:c.173-165C>A | ENSP00000467494.1:n.173-165C>A | |
| ENST00000591322.1:c.-26-165C>A | ENSP00000465385.1:n.-26-165C>A | |
| NM_000164.2:c.173-165C>A | NP_000155.1:n.173-165C>A | |
| NM_000164.3:c.173-165C>A | NP_000155.1:n.173-165C>A | |
| NM_001308418.1:c.172+386C>A | NP_001295347.1:n.172+386C>A | |
| XM_011526709.1:c.173-165C>A | XP_011525011.1:n.173-165C>A | |
| XM_011526710.1:c.173-165C>A | XP_011525012.1:n.173-165C>A | |
| XM_011526711.1:c.172+386C>A | XP_011525013.1:n.172+386C>A | |
| XM_011526712.1:c.172+386C>A | XP_011525014.1:n.172+386C>A | |
| XM_011526713.1:c.173-165C>A | XP_011525015.1:n.173-165C>A | |
| XM_011526714.1:c.-137-1731C>A | XP_011525016.1:n.-137-1731C>A | |
| XM_011526715.1:c.-147-1731C>A | XP_011525017.1:n.-147-1731C>A | |
| XM_011526716.1:c.173-165C>A | XP_011525018.1:n.173-165C>A | |
| XM_011526717.1:c.173-165C>A | XP_011525019.1:n.173-165C>A | |
| XR_935791.1:n.323-165C>A | ||
| XM_011526709.2:c.173-165C>A | XP_011525011.1:n.173-165C>A | |
| XM_011526710.2:c.173-165C>A | XP_011525012.1:n.173-165C>A | |
| XM_011526711.2:c.172+386C>A | XP_011525013.1:n.172+386C>A | |
| XM_011526713.2:c.173-165C>A | XP_011525015.1:n.173-165C>A | |
| XM_011526714.2:c.-137-1731C>A | XP_011525016.1:n.-137-1731C>A | |
| XM_011526715.2:c.-147-1731C>A | XP_011525017.1:n.-147-1731C>A | |
| XM_011526716.2:c.173-165C>A | XP_011525018.1:n.173-165C>A | |
| XR_001753655.1:n.329-165C>A | ||
| XR_935791.2:n.329-165C>A | ||
| NM_000164.4:c.173-165C>A MANE Select | NP_000155.1:n.173-165C>A | |
| NM_001308418.2:c.172+386C>A | NP_001295347.1:n.172+386C>A |