Linked Data
ClinVar Variation Id:
283047
dbSNP Id:
rs375657891
ExAC:
2:238257252 G / A
gnomAD v2:
2-238257252-G-A
gnomAD v3:
2-237348609-G-A
gnomAD v4:
2-237348609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237348609G>A , CM000664.2:g.237348609G>A | GRCh38 |
| NC_000002.11:g.238257252G>A , CM000664.1:g.238257252G>A | GRCh37 |
| NC_000002.10:g.237921991G>A | NCBI36 |
| NG_008676.1:g.70599C>T , LRG_473:g.70599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6312+4C>T | ENSP00000315873.4:n.6312+4C>T | |
| ENST00000295550.9:c.6930+4C>T MANE Select | ENSP00000295550.4:n.6930+4C>T | |
| ENST00000295550.8:c.6930+4C>T | ENSP00000295550.4:n.6930+4C>T | |
| ENST00000347401.7:c.5109+4C>T | ENSP00000315609.4:n.5109+4C>T | |
| ENST00000353578.8:c.6312+4C>T | ENSP00000315873.4:n.6312+4C>T | |
| ENST00000409809.5:c.6312+4C>T | ENSP00000386844.1:n.6312+4C>T | |
| ENST00000472056.5:c.5109+4C>T | ENSP00000418285.1:n.5109+4C>T | |
| ENST00000491769.1:n.1184+4C>T | ||
| NM_004369.3:c.6930+4C>T , LRG_473t1:c.6930+4C>T | NP_004360.2:n.6930+4C>T | |
| NM_057166.4:c.5109+4C>T | NP_476507.3:n.5109+4C>T | |
| NM_057167.3:c.6312+4C>T | NP_476508.2:n.6312+4C>T | |
| XM_005246065.1:c.6330+4C>T | XP_005246122.1:n.6330+4C>T | |
| XM_005246066.1:c.5709+4C>T | XP_005246123.1:n.5709+4C>T | |
| XM_006712253.1:c.6429+4C>T | XP_006712316.1:n.6429+4C>T | |
| XM_011510574.1:c.6927+4C>T | XP_011508876.1:n.6927+4C>T | |
| XM_011510575.1:c.4524+4C>T | XP_011508877.1:n.4524+4C>T | |
| XM_017003304.1:c.4524+4C>T | XP_016858793.1:n.4524+4C>T | |
| XM_024452684.1:c.5709+4C>T | XP_024308452.1:n.5709+4C>T | |
| NM_004369.4:c.6930+4C>T MANE Select | NP_004360.2:n.6930+4C>T | |
| NM_057166.5:c.5109+4C>T | NP_476507.3:n.5109+4C>T | |
| NM_057167.4:c.6312+4C>T | NP_476508.2:n.6312+4C>T |