Linked Data
ClinVar Variation Id:
335106
ClinVar RCV Id:
RCV000363519
dbSNP Id:
rs886055805
gnomAD v3:
2-237344369-T-G
gnomAD v4:
2-237344369-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344369T>G , CM000664.2:g.237344369T>G | GRCh38 |
| NC_000002.11:g.238253012T>G , CM000664.1:g.238253012T>G | GRCh37 |
| NC_000002.10:g.237917751T>G | NCBI36 |
| NG_008676.1:g.74839A>C , LRG_473:g.74839A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.294A>C | ||
| ENST00000353578.9:c.7031A>C | ENSP00000315873.4:p.Gln2344Pro | |
| ENST00000295550.9:c.7649A>C MANE Select | ENSP00000295550.4:p.Gln2550Pro | |
| ENST00000295550.8:c.7649A>C | ENSP00000295550.4:p.Gln2550Pro | |
| ENST00000347401.7:c.5825A>C | ENSP00000315609.4:p.Gln1942Pro | |
| ENST00000353578.8:c.7031A>C | ENSP00000315873.4:p.Gln2344Pro | |
| ENST00000409809.5:c.7031A>C | ENSP00000386844.1:p.Gln2344Pro | |
| ENST00000472056.5:c.5828A>C | ENSP00000418285.1:p.Gln1943Pro | |
| ENST00000491769.1:n.1903A>C | ||
| NM_004369.3:c.7649A>C , LRG_473t1:c.7649A>C | NP_004360.2:p.Gln2550Pro | |
| NM_057166.4:c.5828A>C | NP_476507.3:p.Gln1943Pro | |
| NM_057167.3:c.7031A>C | NP_476508.2:p.Gln2344Pro | |
| XM_005246065.1:c.7049A>C | XP_005246122.1:p.Gln2350Pro | |
| XM_005246066.1:c.6428A>C | XP_005246123.1:p.Gln2143Pro | |
| XM_006712253.1:c.7148A>C | XP_006712316.1:p.Gln2383Pro | |
| XM_011510574.1:c.7646A>C | XP_011508876.1:p.Gln2549Pro | |
| XM_011510575.1:c.5243A>C | XP_011508877.1:p.Gln1748Pro | |
| XM_017003304.1:c.5243A>C | XP_016858793.1:p.Gln1748Pro | |
| XM_024452684.1:c.6428A>C | XP_024308452.1:p.Gln2143Pro | |
| NM_004369.4:c.7649A>C MANE Select | NP_004360.2:p.Gln2550Pro | |
| NM_057166.5:c.5828A>C | NP_476507.3:p.Gln1943Pro | |
| NM_057167.4:c.7031A>C | NP_476508.2:p.Gln2344Pro |