Linked Data
dbSNP Id:
rs775328500
ExAC:
7:99367385 A / C
gnomAD v2:
7-99367385-A-C
gnomAD v3:
7-99769762-A-C
gnomAD v4:
7-99769762-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769762A>C , CM000669.2:g.99769762A>C | GRCh38 |
| NC_000007.13:g.99367385A>C , CM000669.1:g.99367385A>C | GRCh37 |
| NC_000007.12:g.99205321A>C | NCBI36 |
| NG_008421.1:g.19424T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.521+6T>G | ENSP00000337915.3:n.521+6T>G | |
| ENST00000651514.1:c.521+6T>G MANE Select | ENSP00000498939.1:n.521+6T>G | |
| ENST00000651783.1:c.58-1255T>G | ENSP00000498924.1:n.58-1255T>G | |
| ENST00000652018.1:c.374+6T>G | ENSP00000498733.1:n.374+6T>G | |
| ENST00000336411.6:c.521+6T>G | ENSP00000337915.2:n.521+6T>G | |
| ENST00000354593.6:c.72-1260T>G | ENSP00000346607.2:n.72-1260T>G | |
| ENST00000480043.1:n.424T>G | ||
| NM_001202855.2:c.521+6T>G | NP_001189784.1:n.521+6T>G | |
| NM_017460.5:c.521+6T>G | NP_059488.2:n.521+6T>G | |
| XM_011515841.1:c.521+6T>G | XP_011514143.1:n.521+6T>G | |
| XM_011515842.1:c.521+6T>G | XP_011514144.1:n.521+6T>G | |
| NM_017460.6:c.521+6T>G MANE Select | NP_059488.2:n.521+6T>G | |
| NM_001202855.3:c.521+6T>G | NP_001189784.1:n.521+6T>G |