Linked Data
dbSNP Id:
rs35599367
gnomAD v2:
7-99366316-G-A
gnomAD v3:
7-99768693-G-A
gnomAD v4:
7-99768693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768693G>A , CM000669.2:g.99768693G>A | GRCh38 |
| NC_000007.13:g.99366316G>A , CM000669.1:g.99366316G>A | GRCh37 |
| NC_000007.12:g.99204252G>A | NCBI36 |
| NG_008421.1:g.20493C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.522-191C>T | ENSP00000337915.3:n.522-191C>T | |
| ENST00000651514.1:c.522-191C>T MANE Select | ENSP00000498939.1:n.522-191C>T | |
| ENST00000651783.1:c.58-186C>T | ENSP00000498924.1:n.58-186C>T | |
| ENST00000652018.1:c.375-191C>T | ENSP00000498733.1:n.375-191C>T | |
| ENST00000336411.6:c.522-191C>T | ENSP00000337915.2:n.522-191C>T | |
| ENST00000354593.6:c.72-191C>T | ENSP00000346607.2:n.72-191C>T | |
| NM_001202855.2:c.522-191C>T | NP_001189784.1:n.522-191C>T | |
| NM_017460.5:c.522-191C>T | NP_059488.2:n.522-191C>T | |
| XM_011515841.1:c.522-191C>T | XP_011514143.1:n.522-191C>T | |
| XM_011515842.1:c.522-191C>T | XP_011514144.1:n.522-191C>T | |
| NM_017460.6:c.522-191C>T MANE Select | NP_059488.2:n.522-191C>T | |
| NM_001202855.3:c.522-191C>T | NP_001189784.1:n.522-191C>T |