Linked Data
dbSNP Id:
rs774560143
gnomAD v2:
7-146897414-G-A
gnomAD v3:
7-147200322-G-A
gnomAD v4:
7-147200322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147200322G>A , CM000669.2:g.147200322G>A | GRCh38 |
| NC_000007.13:g.146897414G>A , CM000669.1:g.146897414G>A | GRCh37 |
| NC_000007.12:g.146528347G>A | NCBI36 |
| NG_007092.2:g.1088962G>A | |
| NG_007092.3:g.1089322G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1348+67813G>A MANE Select | ENSP00000354778.3:n.1348+67813G>A | |
| ENST00000636870.1:n.1210+67813G>A | ||
| ENST00000637694.1:n.1251+67813G>A | ||
| ENST00000637825.1:n.831+67813G>A | ||
| ENST00000638117.1:n.1251+67813G>A | ||
| ENST00000361727.7:c.1348+67813G>A | ENSP00000354778.3:n.1348+67813G>A | |
| NM_014141.5:c.1348+67813G>A | NP_054860.1:n.1348+67813G>A | |
| XM_017011950.2:c.1348+67813G>A | XP_016867439.1:n.1348+67813G>A | |
| NM_014141.6:c.1348+67813G>A MANE Select | NP_054860.1:n.1348+67813G>A |