Linked Data
dbSNP Id:
rs1208844081
gnomAD v2:
7-99365844-C-A
gnomAD v3:
7-99768221-C-A
gnomAD v4:
7-99768221-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768221C>A , CM000669.2:g.99768221C>A | GRCh38 |
| NC_000007.13:g.99365844C>A , CM000669.1:g.99365844C>A | GRCh37 |
| NC_000007.12:g.99203780C>A | NCBI36 |
| NG_008421.1:g.20965G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.670+133G>T | ENSP00000337915.3:n.670+133G>T | |
| ENST00000651514.1:c.670+133G>T MANE Select | ENSP00000498939.1:n.670+133G>T | |
| ENST00000651783.1:c.211+133G>T | ENSP00000498924.1:n.211+133G>T | |
| ENST00000652018.1:c.523+133G>T | ENSP00000498733.1:n.523+133G>T | |
| ENST00000336411.6:c.670+133G>T | ENSP00000337915.2:n.670+133G>T | |
| ENST00000354593.6:c.220+133G>T | ENSP00000346607.2:n.220+133G>T | |
| NM_001202855.2:c.670+133G>T | NP_001189784.1:n.670+133G>T | |
| NM_017460.5:c.670+133G>T | NP_059488.2:n.670+133G>T | |
| XM_011515841.1:c.670+133G>T | XP_011514143.1:n.670+133G>T | |
| XM_011515842.1:c.670+133G>T | XP_011514144.1:n.670+133G>T | |
| NM_017460.6:c.670+133G>T MANE Select | NP_059488.2:n.670+133G>T | |
| NM_001202855.3:c.670+133G>T | NP_001189784.1:n.670+133G>T |