Linked Data
ClinVar Variation Id:
18258
dbSNP Id:
rs267606645
ExAC:
1:33478946 G / A
gnomAD v2:
1-33478946-G-A
gnomAD v3:
1-33013345-G-A
gnomAD v4:
1-33013345-G-A
PubMed:
PMID:19043416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33013345G>A , CM000663.2:g.33013345G>A | GRCh38 |
| NC_000001.10:g.33478946G>A , CM000663.1:g.33478946G>A | GRCh37 |
| NC_000001.9:g.33251533G>A | NCBI36 |
| NG_016269.1:g.28547C>T , LRG_133:g.28547C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000469238.2:n.1708C>T | ||
| ENST00000491241.2:c.*545C>T | ENSP00000512049.1:n.*545C>T | |
| ENST00000550338.6:c.*545C>T | ENSP00000450008.1:n.*545C>T | |
| ENST00000695598.1:n.1695C>T | ||
| ENST00000695599.1:c.*5438C>T | ENSP00000512046.1:n.*5438C>T | |
| ENST00000695600.1:n.1870C>T | ||
| ENST00000695601.1:c.*545C>T | ENSP00000512047.1:n.*545C>T | |
| ENST00000695602.1:c.*545C>T | ENSP00000512048.1:n.*545C>T | |
| ENST00000695603.1:n.1708C>T | ||
| ENST00000695604.1:c.*362C>T | ENSP00000512050.1:n.*362C>T | |
| ENST00000354858.11:c.430C>T | ENSP00000346921.7:p.Arg144Cys | |
| ENST00000373449.7:c.556C>T | ENSP00000362548.2:p.Arg186Cys | |
| ENST00000672308.1:n.591C>T | ||
| ENST00000672715.1:c.556C>T MANE Select | ENSP00000499935.1:p.Arg186Cys | |
| ENST00000354858.10:c.556C>T | ENSP00000346921.6:p.Arg186Cys | |
| ENST00000373449.6:c.556C>T | ENSP00000362548.2:p.Arg186Cys | |
| ENST00000467905.5:c.556C>T | ENSP00000447082.1:p.Arg186Cys | |
| ENST00000480134.5:c.*59C>T | ENSP00000450109.1:n.*59C>T | |
| ENST00000548033.5:c.430C>T | ENSP00000449003.1:p.Arg144Cys | |
| ENST00000550338.5:c.*545C>T | ENSP00000450008.1:n.*545C>T | |
| ENST00000629371.2:c.*59C>T | ENSP00000486507.1:n.*59C>T | |
| NM_001199199.1:c.532C>T | NP_001186128.1:p.Arg178Cys | |
| NM_001625.3:c.556C>T | NP_001616.1:p.Arg186Cys | |
| NM_013411.4:c.556C>T | NP_037543.1:p.Arg186Cys | |
| NR_037591.1:n.757C>T | ||
| NR_037592.1:n.757C>T | ||
| XM_011540967.1:c.*59C>T | XP_011539269.1:n.*59C>T | |
| XR_246248.1:n.596C>T | ||
| XR_946575.1:n.501C>T | ||
| NM_001319139.1:c.412C>T | NP_001306068.1:p.Arg138Cys | |
| NM_001319140.1:c.412C>T | NP_001306069.1:p.Arg138Cys | |
| NM_001319141.1:c.556C>T | NP_001306070.1:p.Arg186Cys | |
| NM_001319142.1:c.430C>T | NP_001306071.1:p.Arg144Cys | |
| NM_001319143.1:c.*59C>T | NP_001306072.1:n.*59C>T | |
| NR_134976.1:n.544C>T | ||
| XR_001737036.1:n.501C>T | ||
| XR_246248.2:n.596C>T | ||
| NM_001199199.2:c.532C>T | NP_001186128.1:p.Arg178Cys | |
| NM_001319139.2:c.412C>T | NP_001306068.1:p.Arg138Cys | |
| NM_001319141.2:c.556C>T | NP_001306070.1:p.Arg186Cys | |
| NM_001319142.2:c.430C>T | NP_001306071.1:p.Arg144Cys | |
| NM_001625.4:c.556C>T MANE Select | NP_001616.1:p.Arg186Cys | |
| NM_013411.5:c.556C>T | NP_037543.1:p.Arg186Cys | |
| NR_134976.2:n.516C>T | ||
| NM_001199199.3:c.532C>T | NP_001186128.1:p.Arg178Cys | |
| NM_001319139.3:c.412C>T | NP_001306068.1:p.Arg138Cys | |
| NM_001319140.2:c.412C>T | NP_001306069.1:p.Arg138Cys | |
| NM_001319141.3:c.556C>T | NP_001306070.1:p.Arg186Cys | |
| NM_001319142.3:c.430C>T | NP_001306071.1:p.Arg144Cys | |
| NM_001319143.2:c.*59C>T | NP_001306072.1:n.*59C>T | |
| NR_134976.3:n.516C>T |