Linked Data
dbSNP Id:
rs412000
gnomAD v2:
17-56709058-G-A
gnomAD v3:
17-58631697-G-A
gnomAD v4:
17-58631697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58631697G>A , CM000679.2:g.58631697G>A | GRCh38 |
| NC_000017.10:g.56709058G>A , CM000679.1:g.56709058G>A | GRCh37 |
| NC_000017.9:g.54064057G>A | NCBI36 |
| NG_047169.1:g.65383C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349033.10:c.137-1143C>T MANE Select | ENSP00000268910.8:n.137-1143C>T | |
| ENST00000240361.12:c.137-1143C>T | ENSP00000240361.8:n.137-1143C>T | |
| ENST00000349033.9:c.137-1143C>T | ENSP00000268910.8:n.137-1143C>T | |
| ENST00000389934.7:c.137-1143C>T | ENSP00000374584.3:n.137-1143C>T | |
| ENST00000582740.1:c.*57-1143C>T | ENSP00000463593.1:n.*57-1143C>T | |
| NM_001201457.1:c.137-1143C>T | NP_001188386.1:n.137-1143C>T | |
| NM_031272.4:c.137-1143C>T | NP_112562.3:n.137-1143C>T | |
| NM_198393.3:c.137-1143C>T | NP_938207.2:n.137-1143C>T | |
| XM_011525028.1:c.137-1143C>T | XP_011523330.1:n.137-1143C>T | |
| XM_011525029.1:c.137-1143C>T | XP_011523331.1:n.137-1143C>T | |
| XM_011525030.1:c.137-1143C>T | XP_011523332.1:n.137-1143C>T | |
| XM_011525031.1:c.137-1143C>T | XP_011523333.1:n.137-1143C>T | |
| XM_011525032.1:c.137-1143C>T | XP_011523334.1:n.137-1143C>T | |
| XM_011525029.3:c.137-1143C>T | XP_011523331.1:n.137-1143C>T | |
| XM_017024861.1:c.-861-1143C>T | XP_016880350.1:n.-861-1143C>T | |
| NM_001201457.2:c.137-1143C>T | NP_001188386.1:n.137-1143C>T | |
| NM_031272.5:c.137-1143C>T MANE Select | NP_112562.3:n.137-1143C>T | |
| NM_198393.4:c.137-1143C>T | NP_938207.2:n.137-1143C>T |