Linked Data
dbSNP Id:
rs4986907
ExAC:
7:99367427 C / T
gnomAD v2:
7-99367427-C-T
gnomAD v3:
7-99769804-C-T
gnomAD v4:
7-99769804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769804C>T , CM000669.2:g.99769804C>T | GRCh38 |
| NC_000007.13:g.99367427C>T , CM000669.1:g.99367427C>T | GRCh37 |
| NC_000007.12:g.99205363C>T | NCBI36 |
| NG_008421.1:g.19382G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336411.7:c.485G>A | ENSP00000337915.3:p.Arg162Gln | |
| ENST00000651514.1:c.485G>A MANE Select | ENSP00000498939.1:p.Arg162Gln | |
| ENST00000651783.1:c.58-1297G>A | ENSP00000498924.1:n.58-1297G>A | |
| ENST00000652018.1:c.338G>A | ENSP00000498733.1:p.Arg113Gln | |
| ENST00000336411.6:c.485G>A | ENSP00000337915.2:p.Arg162Gln | |
| ENST00000354593.6:c.72-1302G>A | ENSP00000346607.2:n.72-1302G>A | |
| ENST00000480043.1:n.382G>A | ||
| NM_001202855.2:c.485G>A | NP_001189784.1:p.Arg162Gln | |
| NM_017460.5:c.485G>A | NP_059488.2:p.Arg162Gln | |
| XM_011515841.1:c.485G>A | XP_011514143.1:p.Arg162Gln | |
| XM_011515842.1:c.485G>A | XP_011514144.1:p.Arg162Gln | |
| NM_017460.6:c.485G>A MANE Select | NP_059488.2:p.Arg162Gln | |
| NM_001202855.3:c.485G>A | NP_001189784.1:p.Arg162Gln |