Linked Data
dbSNP Id:
rs2190004
gnomAD v2:
7-147268460-A-G
gnomAD v3:
7-147571368-A-G
gnomAD v4:
7-147571368-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571368A>G , CM000669.2:g.147571368A>G | GRCh38 |
| NC_000007.13:g.147268460A>G , CM000669.1:g.147268460A>G | GRCh37 |
| NC_000007.12:g.146899393A>G | NCBI36 |
| NG_007092.2:g.1460008A>G | |
| NG_007092.3:g.1460368A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1897+9111A>G MANE Select | ENSP00000354778.3:n.1897+9111A>G | |
| ENST00000636870.1:n.1759+9111A>G | ||
| ENST00000637825.1:n.1380+9111A>G | ||
| ENST00000638117.1:n.1800+9111A>G | ||
| ENST00000361727.7:c.1897+9111A>G | ENSP00000354778.3:n.1897+9111A>G | |
| NM_014141.5:c.1897+9111A>G | NP_054860.1:n.1897+9111A>G | |
| XM_006715919.1:c.385+9111A>G | XP_006715982.1:n.385+9111A>G | |
| XM_017011950.2:c.1897+9111A>G | XP_016867439.1:n.1897+9111A>G | |
| NM_014141.6:c.1897+9111A>G MANE Select | NP_054860.1:n.1897+9111A>G |