Linked Data
ClinVar Variation Id:
2441771
ClinVar RCV Id:
RCV003148057
dbSNP Id:
rs1355507329
gnomAD v2:
17-56649347-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58571986T>A , CM000679.2:g.58571986T>A | GRCh38 |
| NC_000017.10:g.56649347T>A , CM000679.1:g.56649347T>A | GRCh37 |
| NC_000017.9:g.54004346T>A | NCBI36 |
| NG_047169.1:g.125094A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3652A>T MANE Select | ENSP00000268910.8:p.Arg1218Ter | |
| ENST00000240361.12:c.3790A>T | ENSP00000240361.8:p.Arg1264Ter | |
| ENST00000349033.9:c.3652A>T | ENSP00000268910.8:p.Arg1218Ter | |
| ENST00000389934.7:c.3772A>T | ENSP00000374584.3:p.Arg1258Ter | |
| ENST00000581147.1:c.212A>T | ||
| ENST00000582740.1:c.*3490A>T | ENSP00000463593.1:n.*3490A>T | |
| NM_001201457.1:c.3790A>T | NP_001188386.1:p.Arg1264Ter | |
| NM_031272.4:c.3652A>T | NP_112562.3:p.Arg1218Ter | |
| NM_198393.3:c.3772A>T | NP_938207.2:p.Arg1258Ter | |
| XM_011525028.1:c.3895A>T | XP_011523330.1:p.Arg1299Ter | |
| XM_011525029.1:c.3895A>T | XP_011523331.1:p.Arg1299Ter | |
| XM_011525030.1:c.3895A>T | XP_011523332.1:p.Arg1299Ter | |
| XM_011525031.1:c.3895A>T | XP_011523333.1:p.Arg1299Ter | |
| XM_011525032.1:c.3658A>T | XP_011523334.1:p.Arg1220Ter | |
| XM_011525033.1:c.2596A>T | XP_011523335.1:p.Arg866Ter | |
| XM_011525029.3:c.3895A>T | XP_011523331.1:p.Arg1299Ter | |
| XM_017024861.1:c.2596A>T | XP_016880350.1:p.Arg866Ter | |
| NM_001201457.2:c.3790A>T | NP_001188386.1:p.Arg1264Ter | |
| NM_031272.5:c.3652A>T MANE Select | NP_112562.3:p.Arg1218Ter | |
| NM_198393.4:c.3772A>T | NP_938207.2:p.Arg1258Ter |