Linked Data
ClinVar Variation Id:
2340993
ClinVar RCV Id:
RCV004180896
dbSNP Id:
rs145643630
ExAC:
17:56646615 G / A
gnomAD v2:
17-56646615-G-A
gnomAD v3:
17-58569254-G-A
gnomAD v4:
17-58569254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58569254G>A , CM000679.2:g.58569254G>A | GRCh38 |
| NC_000017.10:g.56646615G>A , CM000679.1:g.56646615G>A | GRCh37 |
| NC_000017.9:g.54001614G>A | NCBI36 |
| NG_047169.1:g.127826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3824C>T MANE Select | ENSP00000268910.8:p.Ala1275Val | |
| ENST00000240361.12:c.3962C>T | ENSP00000240361.8:p.Ala1321Val | |
| ENST00000349033.9:c.3824C>T | ENSP00000268910.8:p.Ala1275Val | |
| ENST00000389934.7:c.3944C>T | ENSP00000374584.3:p.Ala1315Val | |
| ENST00000581147.1:c.384C>T | ||
| ENST00000582740.1:c.*3662C>T | ENSP00000463593.1:n.*3662C>T | |
| NM_001201457.1:c.3962C>T | NP_001188386.1:p.Ala1321Val | |
| NM_031272.4:c.3824C>T | NP_112562.3:p.Ala1275Val | |
| NM_198393.3:c.3944C>T | NP_938207.2:p.Ala1315Val | |
| XM_011525028.1:c.4067C>T | XP_011523330.1:p.Ala1356Val | |
| XM_011525029.1:c.4067C>T | XP_011523331.1:p.Ala1356Val | |
| XM_011525030.1:c.4064C>T | XP_011523332.1:p.Ala1355Val | |
| XM_011525031.1:c.4060+1131C>T | XP_011523333.1:n.4060+1131C>T | |
| XM_011525032.1:c.3830C>T | XP_011523334.1:p.Ala1277Val | |
| XM_011525033.1:c.2768C>T | XP_011523335.1:p.Ala923Val | |
| XM_011525029.3:c.4067C>T | XP_011523331.1:p.Ala1356Val | |
| XM_017024861.1:c.2768C>T | XP_016880350.1:p.Ala923Val | |
| NM_001201457.2:c.3962C>T | NP_001188386.1:p.Ala1321Val | |
| NM_031272.5:c.3824C>T MANE Select | NP_112562.3:p.Ala1275Val | |
| NM_198393.4:c.3944C>T | NP_938207.2:p.Ala1315Val |