Linked Data
dbSNP Id:
rs1224114622
gnomAD v2:
12-21715661-C-A
gnomAD v3:
12-21562727-C-A
gnomAD v4:
12-21562727-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562727C>A , CM000674.2:g.21562727C>A | GRCh38 |
| NC_000012.11:g.21715661C>A , CM000674.1:g.21715661C>A | GRCh37 |
| NC_000012.10:g.21606928C>A | NCBI36 |
| NG_016167.1:g.47121G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1062+191G>T MANE Select | ENSP00000261195.2:n.1062+191G>T | |
| ENST00000647960.1:c.*1064+191G>T | ENSP00000497202.1:n.*1064+191G>T | |
| ENST00000648372.1:n.989+191G>T | ||
| ENST00000261195.2:c.1062+191G>T | ENSP00000261195.2:n.1062+191G>T | |
| NM_021957.3:c.1062+191G>T | NP_068776.2:n.1062+191G>T | |
| XM_005253352.1:c.1062+191G>T | XP_005253409.1:n.1062+191G>T | |
| XM_005253354.2:c.843+191G>T | XP_005253411.1:n.843+191G>T | |
| XM_006719062.2:c.1062+191G>T | XP_006719125.1:n.1062+191G>T | |
| XM_006719063.2:c.831+191G>T | XP_006719126.1:n.831+191G>T | |
| NM_021957.4:c.1062+191G>T MANE Select | NP_068776.2:n.1062+191G>T | |
| XM_006719063.3:c.831+191G>T | XP_006719126.1:n.831+191G>T | |
| XM_017019245.2:c.1062+191G>T | XP_016874734.1:n.1062+191G>T | |
| XM_024448960.1:c.1062+191G>T | XP_024304728.1:n.1062+191G>T |