Linked Data
ClinVar Variation Id:
18261
ClinVar RCV Id:
RCV000019923
dbSNP Id:
rs267606646
PubMed:
PMID:19043416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33013204T>A , CM000663.2:g.33013204T>A | GRCh38 |
| NC_000001.10:g.33478805T>A , CM000663.1:g.33478805T>A | GRCh37 |
| NC_000001.9:g.33251392T>A | NCBI36 |
| NG_016269.1:g.28688A>T , LRG_133:g.28688A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.1849A>T | ||
| ENST00000491241.2:c.*683+3A>T | ENSP00000512049.1:n.*683+3A>T | |
| ENST00000550338.6:c.*683+3A>T | ENSP00000450008.1:n.*683+3A>T | |
| ENST00000695598.1:n.1836A>T | ||
| ENST00000695599.1:c.*5576+3A>T | ENSP00000512046.1:n.*5576+3A>T | |
| ENST00000695600.1:n.2011A>T | ||
| ENST00000695601.1:c.*683+3A>T | ENSP00000512047.1:n.*683+3A>T | |
| ENST00000695602.1:c.*686A>T | ENSP00000512048.1:n.*686A>T | |
| ENST00000695603.1:n.1849A>T | ||
| ENST00000695604.1:c.*503A>T | ENSP00000512050.1:n.*503A>T | |
| ENST00000354858.11:c.571A>T | ENSP00000346921.7:p.Lys191Ter | |
| ENST00000373449.7:c.694+3A>T | ENSP00000362548.2:n.694+3A>T | |
| ENST00000672308.1:n.732A>T | ||
| ENST00000672715.1:c.697A>T MANE Select | ENSP00000499935.1:p.Lys233Ter | |
| ENST00000354858.10:c.697A>T | ENSP00000346921.6:p.Lys233Ter | |
| ENST00000373449.6:c.694+3A>T | ENSP00000362548.2:n.694+3A>T | |
| ENST00000467905.5:c.694+3A>T | ENSP00000447082.1:n.694+3A>T | |
| ENST00000480134.5:c.*200A>T | ENSP00000450109.1:n.*200A>T | |
| ENST00000491241.1:n.81+3A>T | ||
| ENST00000548033.5:c.568+3A>T | ENSP00000449003.1:n.568+3A>T | |
| ENST00000629371.2:c.*197+3A>T | ENSP00000486507.1:n.*197+3A>T | |
| NM_001199199.1:c.670+3A>T | NP_001186128.1:n.670+3A>T | |
| NM_001625.3:c.697A>T | NP_001616.1:p.Lys233Ter | |
| NM_013411.4:c.694+3A>T | NP_037543.1:n.694+3A>T | |
| NR_037591.1:n.895+3A>T | ||
| NR_037592.1:n.898A>T | ||
| XM_011540967.1:c.*200A>T | XP_011539269.1:n.*200A>T | |
| XR_246248.1:n.737A>T | ||
| XR_946575.1:n.639+3A>T | ||
| NM_001319139.1:c.550+3A>T | NP_001306068.1:n.550+3A>T | |
| NM_001319140.1:c.553A>T | NP_001306069.1:p.Lys185Ter | |
| NM_001319141.1:c.694+3A>T | NP_001306070.1:n.694+3A>T | |
| NM_001319142.1:c.568+3A>T | NP_001306071.1:n.568+3A>T | |
| NM_001319143.1:c.*200A>T | NP_001306072.1:n.*200A>T | |
| NR_134976.1:n.682+3A>T | ||
| XR_001737036.1:n.642A>T | ||
| XR_246248.2:n.737A>T | ||
| NM_001199199.2:c.670+3A>T | NP_001186128.1:n.670+3A>T | |
| NM_001319139.2:c.550+3A>T | NP_001306068.1:n.550+3A>T | |
| NM_001319141.2:c.694+3A>T | NP_001306070.1:n.694+3A>T | |
| NM_001319142.2:c.568+3A>T | NP_001306071.1:n.568+3A>T | |
| NM_001625.4:c.697A>T MANE Select | NP_001616.1:p.Lys233Ter | |
| NM_013411.5:c.694+3A>T | NP_037543.1:n.694+3A>T | |
| NR_134976.2:n.654+3A>T | ||
| NM_001199199.3:c.670+3A>T | NP_001186128.1:n.670+3A>T | |
| NM_001319139.3:c.550+3A>T | NP_001306068.1:n.550+3A>T | |
| NM_001319140.2:c.553A>T | NP_001306069.1:p.Lys185Ter | |
| NM_001319141.3:c.694+3A>T | NP_001306070.1:n.694+3A>T | |
| NM_001319142.3:c.568+3A>T | NP_001306071.1:n.568+3A>T | |
| NM_001319143.2:c.*200A>T | NP_001306072.1:n.*200A>T | |
| NR_134976.3:n.654+3A>T |