Linked Data
ClinVar Variation Id:
3078752
ClinVar RCV Id:
RCV004375041
dbSNP Id:
rs1425690401
gnomAD v2:
11-88027571-T-G
gnomAD v4:
11-88294403-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294403T>G , CM000673.2:g.88294403T>G | GRCh38 |
| NC_000011.9:g.88027571T>G , CM000673.1:g.88027571T>G | GRCh37 |
| NC_000011.8:g.87667219T>G | NCBI36 |
| NG_007952.1:g.48371A>C , LRG_50:g.48371A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.995A>C MANE Select | ENSP00000227266.4:p.Lys332Thr | |
| ENST00000533897.2:n.5308A>C | ||
| ENST00000676612.1:c.*802A>C | ENSP00000504440.1:n.*802A>C | |
| ENST00000677208.1:c.*501A>C | ENSP00000504347.1:n.*501A>C | |
| ENST00000677661.1:c.*672A>C | ENSP00000503323.1:n.*672A>C | |
| ENST00000677802.1:c.*672A>C | ENSP00000504115.1:n.*672A>C | |
| ENST00000678395.1:c.*501A>C | ENSP00000503123.1:n.*501A>C | |
| ENST00000678464.1:c.962A>C | ENSP00000503046.1:p.Lys321Thr | |
| ENST00000678506.1:c.956A>C | ENSP00000503580.1:p.Lys319Thr | |
| ENST00000678520.1:c.*646A>C | ENSP00000503361.1:n.*646A>C | |
| ENST00000678554.1:c.889+1730A>C | ENSP00000504541.1:n.889+1730A>C | |
| ENST00000678915.1:c.863A>C | ENSP00000504805.1:p.Lys288Thr | |
| ENST00000679224.1:c.632A>C | ENSP00000504475.1:p.Lys211Thr | |
| ENST00000227266.9:c.995A>C | ENSP00000227266.4:p.Lys332Thr | |
| ENST00000533897.1:n.3729A>C | ||
| NM_001814.4:c.995A>C , LRG_50t1:c.995A>C | NP_001805.3:p.Lys332Thr | |
| NM_001814.5:c.995A>C | NP_001805.3:p.Lys332Thr | |
| NM_001814.6:c.995A>C MANE Select | NP_001805.4:p.Lys332Thr |