Linked Data
dbSNP Id:
rs532420480
gnomAD v2:
2-238252831-G-C
gnomAD v3:
2-237344188-G-C
gnomAD v4:
2-237344188-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344188G>C , CM000664.2:g.237344188G>C | GRCh38 |
| NC_000002.11:g.238252831G>C , CM000664.1:g.238252831G>C | GRCh37 |
| NC_000002.10:g.237917570G>C | NCBI36 |
| NG_008676.1:g.75020C>G , LRG_473:g.75020C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.313+162C>G | ||
| ENST00000353578.9:c.7050+162C>G | ENSP00000315873.4:n.7050+162C>G | |
| ENST00000295550.9:c.7668+162C>G MANE Select | ENSP00000295550.4:n.7668+162C>G | |
| ENST00000295550.8:c.7668+162C>G | ENSP00000295550.4:n.7668+162C>G | |
| ENST00000347401.7:c.5844+162C>G | ENSP00000315609.4:n.5844+162C>G | |
| ENST00000353578.8:c.7050+162C>G | ENSP00000315873.4:n.7050+162C>G | |
| ENST00000409809.5:c.7050+162C>G | ENSP00000386844.1:n.7050+162C>G | |
| ENST00000472056.5:c.5847+162C>G | ENSP00000418285.1:n.5847+162C>G | |
| ENST00000491769.1:n.2084C>G | ||
| NM_004369.3:c.7668+162C>G , LRG_473t1:c.7668+162C>G | NP_004360.2:n.7668+162C>G | |
| NM_057166.4:c.5847+162C>G | NP_476507.3:n.5847+162C>G | |
| NM_057167.3:c.7050+162C>G | NP_476508.2:n.7050+162C>G | |
| XM_005246065.1:c.7068+162C>G | XP_005246122.1:n.7068+162C>G | |
| XM_005246066.1:c.6447+162C>G | XP_005246123.1:n.6447+162C>G | |
| XM_006712253.1:c.7167+162C>G | XP_006712316.1:n.7167+162C>G | |
| XM_011510574.1:c.7665+162C>G | XP_011508876.1:n.7665+162C>G | |
| XM_011510575.1:c.5262+162C>G | XP_011508877.1:n.5262+162C>G | |
| XM_017003304.1:c.5262+162C>G | XP_016858793.1:n.5262+162C>G | |
| XM_024452684.1:c.6447+162C>G | XP_024308452.1:n.6447+162C>G | |
| NM_004369.4:c.7668+162C>G MANE Select | NP_004360.2:n.7668+162C>G | |
| NM_057166.5:c.5847+162C>G | NP_476507.3:n.5847+162C>G | |
| NM_057167.4:c.7050+162C>G | NP_476508.2:n.7050+162C>G |