Linked Data
dbSNP Id:
rs906637145
gnomAD v2:
12-21715818-A-C
gnomAD v3:
12-21562884-A-C
gnomAD v4:
12-21562884-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562884A>C , CM000674.2:g.21562884A>C | GRCh38 |
| NC_000012.11:g.21715818A>C , CM000674.1:g.21715818A>C | GRCh37 |
| NC_000012.10:g.21607085A>C | NCBI36 |
| NG_016167.1:g.46964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1062+34T>G MANE Select | ENSP00000261195.2:n.1062+34T>G | |
| ENST00000647960.1:c.*1064+34T>G | ENSP00000497202.1:n.*1064+34T>G | |
| ENST00000648372.1:n.989+34T>G | ||
| ENST00000261195.2:c.1062+34T>G | ENSP00000261195.2:n.1062+34T>G | |
| NM_021957.3:c.1062+34T>G | NP_068776.2:n.1062+34T>G | |
| XM_005253352.1:c.1062+34T>G | XP_005253409.1:n.1062+34T>G | |
| XM_005253354.2:c.843+34T>G | XP_005253411.1:n.843+34T>G | |
| XM_006719062.2:c.1062+34T>G | XP_006719125.1:n.1062+34T>G | |
| XM_006719063.2:c.831+34T>G | XP_006719126.1:n.831+34T>G | |
| NM_021957.4:c.1062+34T>G MANE Select | NP_068776.2:n.1062+34T>G | |
| XM_006719063.3:c.831+34T>G | XP_006719126.1:n.831+34T>G | |
| XM_017019245.2:c.1062+34T>G | XP_016874734.1:n.1062+34T>G | |
| XM_024448960.1:c.1062+34T>G | XP_024304728.1:n.1062+34T>G |