Linked Data
ClinVar Variation Id:
2335974
ClinVar RCV Id:
RCV004175723
dbSNP Id:
rs146894476
ExAC:
17:56676544 G / A
gnomAD v2:
17-56676544-G-A
gnomAD v3:
17-58599183-G-A
gnomAD v4:
17-58599183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58599183G>A , CM000679.2:g.58599183G>A | GRCh38 |
| NC_000017.10:g.56676544G>A , CM000679.1:g.56676544G>A | GRCh37 |
| NC_000017.9:g.54031543G>A | NCBI36 |
| NG_047169.1:g.97897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.2162C>T MANE Select | ENSP00000268910.8:p.Thr721Met | |
| ENST00000240361.12:c.2180C>T | ENSP00000240361.8:p.Thr727Met | |
| ENST00000349033.9:c.2162C>T | ENSP00000268910.8:p.Thr721Met | |
| ENST00000389934.7:c.2162C>T | ENSP00000374584.3:p.Thr721Met | |
| ENST00000582740.1:c.*2000C>T | ENSP00000463593.1:n.*2000C>T | |
| NM_001201457.1:c.2180C>T | NP_001188386.1:p.Thr727Met | |
| NM_031272.4:c.2162C>T | NP_112562.3:p.Thr721Met | |
| NM_198393.3:c.2162C>T | NP_938207.2:p.Thr721Met | |
| XM_011525028.1:c.2162C>T | XP_011523330.1:p.Thr721Met | |
| XM_011525029.1:c.2162C>T | XP_011523331.1:p.Thr721Met | |
| XM_011525030.1:c.2162C>T | XP_011523332.1:p.Thr721Met | |
| XM_011525031.1:c.2162C>T | XP_011523333.1:p.Thr721Met | |
| XM_011525032.1:c.2048C>T | XP_011523334.1:p.Thr683Met | |
| XM_011525033.1:c.986C>T | XP_011523335.1:p.Thr329Met | |
| XM_011525029.3:c.2162C>T | XP_011523331.1:p.Thr721Met | |
| XM_017024861.1:c.986C>T | XP_016880350.1:p.Thr329Met | |
| NM_001201457.2:c.2180C>T | NP_001188386.1:p.Thr727Met | |
| NM_031272.5:c.2162C>T MANE Select | NP_112562.3:p.Thr721Met | |
| NM_198393.4:c.2162C>T | NP_938207.2:p.Thr721Met |