Linked Data
ClinVar Variation Id:
290495
dbSNP Id:
rs886044464
gnomAD v2:
2-238256447-T-C
gnomAD v3:
2-237347804-T-C
gnomAD v4:
2-237347804-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237347804T>C , CM000664.2:g.237347804T>C | GRCh38 |
| NC_000002.11:g.238256447T>C , CM000664.1:g.238256447T>C | GRCh37 |
| NC_000002.10:g.237921186T>C | NCBI36 |
| NG_008676.1:g.71404A>G , LRG_473:g.71404A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6411+3A>G | ENSP00000315873.4:n.6411+3A>G | |
| ENST00000295550.9:c.7029+3A>G MANE Select | ENSP00000295550.4:n.7029+3A>G | |
| ENST00000295550.8:c.7029+3A>G | ENSP00000295550.4:n.7029+3A>G | |
| ENST00000347401.7:c.5208+3A>G | ENSP00000315609.4:n.5208+3A>G | |
| ENST00000353578.8:c.6411+3A>G | ENSP00000315873.4:n.6411+3A>G | |
| ENST00000409809.5:c.6411+3A>G | ENSP00000386844.1:n.6411+3A>G | |
| ENST00000472056.5:c.5208+3A>G | ENSP00000418285.1:n.5208+3A>G | |
| ENST00000491769.1:n.1283+3A>G | ||
| NM_004369.3:c.7029+3A>G , LRG_473t1:c.7029+3A>G | NP_004360.2:n.7029+3A>G | |
| NM_057166.4:c.5208+3A>G | NP_476507.3:n.5208+3A>G | |
| NM_057167.3:c.6411+3A>G | NP_476508.2:n.6411+3A>G | |
| XM_005246065.1:c.6429+3A>G | XP_005246122.1:n.6429+3A>G | |
| XM_005246066.1:c.5808+3A>G | XP_005246123.1:n.5808+3A>G | |
| XM_006712253.1:c.6528+3A>G | XP_006712316.1:n.6528+3A>G | |
| XM_011510574.1:c.7026+3A>G | XP_011508876.1:n.7026+3A>G | |
| XM_011510575.1:c.4623+3A>G | XP_011508877.1:n.4623+3A>G | |
| XM_017003304.1:c.4623+3A>G | XP_016858793.1:n.4623+3A>G | |
| XM_024452684.1:c.5808+3A>G | XP_024308452.1:n.5808+3A>G | |
| NM_004369.4:c.7029+3A>G MANE Select | NP_004360.2:n.7029+3A>G | |
| NM_057166.5:c.5208+3A>G | NP_476507.3:n.5208+3A>G | |
| NM_057167.4:c.6411+3A>G | NP_476508.2:n.6411+3A>G |