Linked Data
ClinVar Variation Id:
988143
ClinVar RCV Id:
RCV001328125
dbSNP Id:
rs749403509
gnomAD v4:
1-196747162-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747162G>A , CM000663.2:g.196747162G>A | GRCh38 |
| NC_000001.10:g.196716292G>A , CM000663.1:g.196716292G>A | GRCh37 |
| NC_000001.9:g.194982915G>A | NCBI36 |
| NG_007259.1:g.100152G>A , LRG_47:g.100152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4573G>A | ||
| ENST00000695970.1:c.3371G>A | ENSP00000512297.1:p.Arg1124Lys | |
| ENST00000695971.1:c.3524G>A | ENSP00000512298.1:p.Arg1175Lys | |
| ENST00000695972.1:c.*622G>A | ENSP00000512299.1:n.*622G>A | |
| ENST00000695973.1:c.*1909G>A | ENSP00000512300.1:n.*1909G>A | |
| ENST00000695974.1:c.3368G>A | ENSP00000512301.1:p.Arg1123Lys | |
| ENST00000695975.1:c.*1672G>A | ENSP00000512302.1:n.*1672G>A | |
| ENST00000695976.1:c.3356G>A | ENSP00000512303.1:p.Arg1119Lys | |
| ENST00000695981.1:c.3545G>A | ENSP00000512306.1:p.Arg1182Lys | |
| ENST00000695984.1:c.1553G>A | ENSP00000512309.1:p.Arg518Lys | |
| ENST00000695986.1:c.*3196G>A | ENSP00000512311.1:n.*3196G>A | |
| ENST00000695990.1:n.579G>A | ||
| ENST00000696026.1:c.*1827G>A | ENSP00000512335.1:n.*1827G>A | |
| ENST00000696027.1:c.3539G>A | ENSP00000512336.1:p.Arg1180Lys | |
| ENST00000696028.1:c.3473G>A | ENSP00000512337.1:p.Arg1158Lys | |
| ENST00000696029.1:c.3539G>A | ENSP00000512338.1:p.Arg1180Lys | |
| ENST00000696031.1:c.*3063G>A | ENSP00000512340.1:n.*3063G>A | |
| ENST00000696032.1:c.3545G>A | ENSP00000512341.1:p.Arg1182Lys | |
| ENST00000696033.1:c.1160-32635G>A | ENSP00000512342.1:n.1160-32635G>A | |
| ENST00000367429.9:c.3545G>A MANE Select | ENSP00000356399.4:p.Arg1182Lys | |
| ENST00000367429.8:c.3545G>A | ENSP00000356399.4:p.Arg1182Lys | |
| ENST00000466229.5:n.6643G>A | ||
| NM_000186.3:c.3545G>A , LRG_47t1:c.3545G>A | NP_000177.2:p.Arg1182Lys | |
| XR_001737134.2:n.3731G>A | ||
| NM_000186.4:c.3545G>A MANE Select | NP_000177.2:p.Arg1182Lys |