Linked Data
dbSNP Id:
rs539455214
ExAC:
2:238252926 G / T
gnomAD v2:
2-238252926-G-T
gnomAD v4:
2-237344283-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344283G>T , CM000664.2:g.237344283G>T | GRCh38 |
| NC_000002.11:g.238252926G>T , CM000664.1:g.238252926G>T | GRCh37 |
| NC_000002.10:g.237917665G>T | NCBI36 |
| NG_008676.1:g.74925C>A , LRG_473:g.74925C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.313+67C>A | ||
| ENST00000353578.9:c.7050+67C>A | ENSP00000315873.4:n.7050+67C>A | |
| ENST00000295550.9:c.7668+67C>A MANE Select | ENSP00000295550.4:n.7668+67C>A | |
| ENST00000295550.8:c.7668+67C>A | ENSP00000295550.4:n.7668+67C>A | |
| ENST00000347401.7:c.5844+67C>A | ENSP00000315609.4:n.5844+67C>A | |
| ENST00000353578.8:c.7050+67C>A | ENSP00000315873.4:n.7050+67C>A | |
| ENST00000409809.5:c.7050+67C>A | ENSP00000386844.1:n.7050+67C>A | |
| ENST00000472056.5:c.5847+67C>A | ENSP00000418285.1:n.5847+67C>A | |
| ENST00000491769.1:n.1989C>A | ||
| NM_004369.3:c.7668+67C>A , LRG_473t1:c.7668+67C>A | NP_004360.2:n.7668+67C>A | |
| NM_057166.4:c.5847+67C>A | NP_476507.3:n.5847+67C>A | |
| NM_057167.3:c.7050+67C>A | NP_476508.2:n.7050+67C>A | |
| XM_005246065.1:c.7068+67C>A | XP_005246122.1:n.7068+67C>A | |
| XM_005246066.1:c.6447+67C>A | XP_005246123.1:n.6447+67C>A | |
| XM_006712253.1:c.7167+67C>A | XP_006712316.1:n.7167+67C>A | |
| XM_011510574.1:c.7665+67C>A | XP_011508876.1:n.7665+67C>A | |
| XM_011510575.1:c.5262+67C>A | XP_011508877.1:n.5262+67C>A | |
| XM_017003304.1:c.5262+67C>A | XP_016858793.1:n.5262+67C>A | |
| XM_024452684.1:c.6447+67C>A | XP_024308452.1:n.6447+67C>A | |
| NM_004369.4:c.7668+67C>A MANE Select | NP_004360.2:n.7668+67C>A | |
| NM_057166.5:c.5847+67C>A | NP_476507.3:n.5847+67C>A | |
| NM_057167.4:c.7050+67C>A | NP_476508.2:n.7050+67C>A |