Linked Data
ClinVar Variation Id:
2936273
ClinVar RCV Id:
RCV003796559
dbSNP Id:
rs948370541
gnomAD v4:
11-88294402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294402T>C , CM000673.2:g.88294402T>C | GRCh38 |
| NC_000011.9:g.88027570T>C , CM000673.1:g.88027570T>C | GRCh37 |
| NC_000011.8:g.87667218T>C | NCBI36 |
| NG_007952.1:g.48372A>G , LRG_50:g.48372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.996A>G MANE Select | ENSP00000227266.4:p.Lys332= | |
| ENST00000533897.2:n.5309A>G | ||
| ENST00000676612.1:c.*803A>G | ENSP00000504440.1:n.*803A>G | |
| ENST00000677208.1:c.*502A>G | ENSP00000504347.1:n.*502A>G | |
| ENST00000677661.1:c.*673A>G | ENSP00000503323.1:n.*673A>G | |
| ENST00000677802.1:c.*673A>G | ENSP00000504115.1:n.*673A>G | |
| ENST00000678395.1:c.*502A>G | ENSP00000503123.1:n.*502A>G | |
| ENST00000678464.1:c.963A>G | ENSP00000503046.1:p.Lys321= | |
| ENST00000678506.1:c.957A>G | ENSP00000503580.1:p.Lys319= | |
| ENST00000678520.1:c.*647A>G | ENSP00000503361.1:n.*647A>G | |
| ENST00000678554.1:c.889+1731A>G | ENSP00000504541.1:n.889+1731A>G | |
| ENST00000678915.1:c.864A>G | ENSP00000504805.1:p.Lys288= | |
| ENST00000679224.1:c.633A>G | ENSP00000504475.1:p.Lys211= | |
| ENST00000227266.9:c.996A>G | ENSP00000227266.4:p.Lys332= | |
| ENST00000533897.1:n.3730A>G | ||
| NM_001814.4:c.996A>G , LRG_50t1:c.996A>G | NP_001805.3:p.Lys332= | |
| NM_001814.5:c.996A>G | NP_001805.3:p.Lys332= | |
| NM_001814.6:c.996A>G MANE Select | NP_001805.4:p.Lys332= |