Linked Data
dbSNP Id:
rs10404342
gnomAD v2:
19-57132238-C-A
gnomAD v3:
19-56620870-C-A
gnomAD v4:
19-56620870-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56620870C>A , CM000681.2:g.56620870C>A | GRCh38 |
| NC_000019.9:g.57132238C>A , CM000681.1:g.57132238C>A | GRCh37 |
| NC_000019.8:g.61824050C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599599.7:c.161-398C>A MANE Select | ENSP00000471138.2:n.161-398C>A | |
| ENST00000328070.10:c.-20-398C>A | ENSP00000328245.5:n.-20-398C>A | |
| ENST00000599599.5:c.-20-398C>A | ENSP00000471138.1:n.-20-398C>A | |
| NM_021216.4:c.-20-398C>A | NP_067039.1:n.-20-398C>A | |
| XM_011527193.1:c.161-398C>A | XP_011525495.1:n.161-398C>A | |
| XM_011527193.2:c.161-398C>A | XP_011525495.1:n.161-398C>A | |
| XM_017027078.1:c.161-398C>A | XP_016882567.1:n.161-398C>A | |
| XM_017027079.1:c.161-398C>A | XP_016882568.1:n.161-398C>A | |
| XM_017027080.1:c.-20-398C>A | XP_016882569.1:n.-20-398C>A | |
| NM_001370214.1:c.-20-398C>A | NP_001357143.1:n.-20-398C>A | |
| NM_001370215.1:c.161-398C>A MANE Select | NP_001357144.1:n.161-398C>A | |
| NR_163262.1:n.339+6932C>A | ||
| NR_163263.1:n.212+19279C>A | ||
| NM_021216.5:c.-20-398C>A | NP_067039.1:n.-20-398C>A |