Linked Data
dbSNP Id:
rs749476253
ExAC:
7:99367483 A / C
gnomAD v3:
7-99769860-A-C
gnomAD v4:
7-99769860-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769860A>C , CM000669.2:g.99769860A>C | GRCh38 |
| NC_000007.13:g.99367483A>C , CM000669.1:g.99367483A>C | GRCh37 |
| NC_000007.12:g.99205419A>C | NCBI36 |
| NG_008421.1:g.19326T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.433-4T>G | ENSP00000337915.3:n.433-4T>G | |
| ENST00000651514.1:c.433-4T>G MANE Select | ENSP00000498939.1:n.433-4T>G | |
| ENST00000651783.1:c.58-1353T>G | ENSP00000498924.1:n.58-1353T>G | |
| ENST00000652018.1:c.286-4T>G | ENSP00000498733.1:n.286-4T>G | |
| ENST00000336411.6:c.433-4T>G | ENSP00000337915.2:n.433-4T>G | |
| ENST00000354593.6:c.72-1358T>G | ENSP00000346607.2:n.72-1358T>G | |
| ENST00000480043.1:n.330-4T>G | ||
| NM_001202855.2:c.433-4T>G | NP_001189784.1:n.433-4T>G | |
| NM_017460.5:c.433-4T>G | NP_059488.2:n.433-4T>G | |
| XM_011515841.1:c.433-4T>G | XP_011514143.1:n.433-4T>G | |
| XM_011515842.1:c.433-4T>G | XP_011514144.1:n.433-4T>G | |
| NM_017460.6:c.433-4T>G MANE Select | NP_059488.2:n.433-4T>G | |
| NM_001202855.3:c.433-4T>G | NP_001189784.1:n.433-4T>G |