Linked Data
ClinVar Variation Id:
18262
ClinVar RCV Id:
RCV000019924
dbSNP Id:
rs267606647
gnomAD v4:
1-33036804-C-A
PubMed:
PMID:19043416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33036804C>A , CM000663.2:g.33036804C>A | GRCh38 |
| NC_000001.10:g.33502405C>A , CM000663.1:g.33502405C>A | GRCh37 |
| NC_000001.9:g.33274992C>A | NCBI36 |
| NG_016269.1:g.5088G>T , LRG_133:g.5088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.58G>T | ||
| ENST00000491241.2:c.25G>T | ENSP00000512049.1:p.Glu9Ter | |
| ENST00000550338.6:c.25G>T | ENSP00000450008.1:p.Glu9Ter | |
| ENST00000695599.1:c.25G>T | ENSP00000512046.1:p.Glu9Ter | |
| ENST00000695600.1:n.102G>T | ||
| ENST00000695601.1:c.25G>T | ENSP00000512047.1:p.Glu9Ter | |
| ENST00000695602.1:c.25G>T | ENSP00000512048.1:p.Glu9Ter | |
| ENST00000695603.1:n.58G>T | ||
| ENST00000695604.1:c.25G>T | ENSP00000512050.1:p.Glu9Ter | |
| ENST00000695605.1:c.25G>T | ENSP00000512051.1:p.Glu9Ter | |
| ENST00000695606.1:n.40G>T | ||
| ENST00000354858.11:c.25G>T | ENSP00000346921.7:p.Glu9Ter | |
| ENST00000373449.7:c.25G>T | ENSP00000362548.2:p.Glu9Ter | |
| ENST00000672308.1:n.60G>T | ||
| ENST00000672715.1:c.25G>T MANE Select | ENSP00000499935.1:p.Glu9Ter | |
| ENST00000673291.1:c.25G>T | ENSP00000500549.1:p.Glu9Ter | |
| ENST00000354858.10:c.25G>T | ENSP00000346921.6:p.Glu9Ter | |
| ENST00000373449.6:c.25G>T | ENSP00000362548.2:p.Glu9Ter | |
| ENST00000467905.5:c.25G>T | ENSP00000447082.1:p.Glu9Ter | |
| ENST00000480134.5:c.25G>T | ENSP00000450109.1:p.Glu9Ter | |
| ENST00000487289.1:c.25G>T | ENSP00000446849.1:p.Glu9Ter | |
| ENST00000548033.5:c.25G>T | ENSP00000449003.1:p.Glu9Ter | |
| ENST00000548559.1:n.190-5143G>T | ||
| ENST00000550338.5:c.25G>T | ENSP00000450008.1:p.Glu9Ter | |
| ENST00000551979.1:n.65G>T | ||
| ENST00000626911.1:c.25G>T | ENSP00000486342.1:p.Glu9Ter | |
| ENST00000629371.2:c.25G>T | ENSP00000486507.1:p.Glu9Ter | |
| NM_001199199.1:c.25G>T | NP_001186128.1:p.Glu9Ter | |
| NM_001625.3:c.25G>T | NP_001616.1:p.Glu9Ter | |
| NM_013411.4:c.25G>T | NP_037543.1:p.Glu9Ter | |
| NR_037591.1:n.108G>T | ||
| NR_037592.1:n.108G>T | ||
| XM_011540967.1:c.25G>T | XP_011539269.1:p.Glu9Ter | |
| XR_246248.1:n.65G>T | ||
| XR_946575.1:n.65G>T | ||
| NM_001319139.1:c.-238G>T | NP_001306068.1:n.-238G>T | |
| NM_001319140.1:c.-238G>T | NP_001306069.1:n.-238G>T | |
| NM_001319141.1:c.25G>T | NP_001306070.1:p.Glu9Ter | |
| NM_001319142.1:c.25G>T | NP_001306071.1:p.Glu9Ter | |
| NM_001319143.1:c.25G>T | NP_001306072.1:p.Glu9Ter | |
| NR_134976.1:n.108G>T | ||
| XR_001737036.1:n.65G>T | ||
| XR_246248.2:n.65G>T | ||
| NM_001199199.2:c.25G>T | NP_001186128.1:p.Glu9Ter | |
| NM_001319139.2:c.-238G>T | NP_001306068.1:n.-238G>T | |
| NM_001319141.2:c.25G>T | NP_001306070.1:p.Glu9Ter | |
| NM_001319142.2:c.25G>T | NP_001306071.1:p.Glu9Ter | |
| NM_001625.4:c.25G>T MANE Select | NP_001616.1:p.Glu9Ter | |
| NM_013411.5:c.25G>T | NP_037543.1:p.Glu9Ter | |
| NR_134976.2:n.80G>T | ||
| NM_001199199.3:c.25G>T | NP_001186128.1:p.Glu9Ter | |
| NM_001319139.3:c.-238G>T | NP_001306068.1:n.-238G>T | |
| NM_001319140.2:c.-238G>T | NP_001306069.1:n.-238G>T | |
| NM_001319141.3:c.25G>T | NP_001306070.1:p.Glu9Ter | |
| NM_001319142.3:c.25G>T | NP_001306071.1:p.Glu9Ter | |
| NM_001319143.2:c.25G>T | NP_001306072.1:p.Glu9Ter | |
| NR_134976.3:n.80G>T |