Linked Data
ClinVar Variation Id:
1459249
ClinVar RCV Id:
RCV001963026
dbSNP Id:
rs750668143
ExAC:
11:88027591 T / C
gnomAD v2:
11-88027591-T-C
gnomAD v3:
11-88294423-T-C
gnomAD v4:
11-88294423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294423T>C , CM000673.2:g.88294423T>C | GRCh38 |
| NC_000011.9:g.88027591T>C , CM000673.1:g.88027591T>C | GRCh37 |
| NC_000011.8:g.87667239T>C | NCBI36 |
| NG_007952.1:g.48351A>G , LRG_50:g.48351A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.975A>G MANE Select | ENSP00000227266.4:p.Thr325= | |
| ENST00000533897.2:n.5288A>G | ||
| ENST00000676612.1:c.*782A>G | ENSP00000504440.1:n.*782A>G | |
| ENST00000677208.1:c.*481A>G | ENSP00000504347.1:n.*481A>G | |
| ENST00000677661.1:c.*652A>G | ENSP00000503323.1:n.*652A>G | |
| ENST00000677802.1:c.*652A>G | ENSP00000504115.1:n.*652A>G | |
| ENST00000678395.1:c.*481A>G | ENSP00000503123.1:n.*481A>G | |
| ENST00000678464.1:c.942A>G | ENSP00000503046.1:p.Thr314= | |
| ENST00000678506.1:c.936A>G | ENSP00000503580.1:p.Thr312= | |
| ENST00000678520.1:c.*626A>G | ENSP00000503361.1:n.*626A>G | |
| ENST00000678554.1:c.889+1710A>G | ENSP00000504541.1:n.889+1710A>G | |
| ENST00000678915.1:c.843A>G | ENSP00000504805.1:p.Thr281= | |
| ENST00000679224.1:c.612A>G | ENSP00000504475.1:p.Thr204= | |
| ENST00000227266.9:c.975A>G | ENSP00000227266.4:p.Thr325= | |
| ENST00000533897.1:n.3709A>G | ||
| NM_001814.4:c.975A>G , LRG_50t1:c.975A>G | NP_001805.3:p.Thr325= | |
| NM_001814.5:c.975A>G | NP_001805.3:p.Thr325= | |
| NM_001814.6:c.975A>G MANE Select | NP_001805.4:p.Thr325= |