Linked Data
dbSNP Id:
rs1563232683
gnomAD v2:
7-146489631-G-A
gnomAD v3:
7-146792539-G-A
gnomAD v4:
7-146792539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146792539G>A , CM000669.2:g.146792539G>A | GRCh38 |
| NC_000007.13:g.146489631G>A , CM000669.1:g.146489631G>A | GRCh37 |
| NC_000007.12:g.146120564G>A | NCBI36 |
| NG_007092.2:g.681179G>A | |
| NG_007092.3:g.681539G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.208+18158G>A MANE Select | ENSP00000354778.3:n.208+18158G>A | |
| ENST00000636561.1:n.111+18158G>A | ||
| ENST00000637150.1:n.137+18158G>A | ||
| ENST00000637694.1:n.111+18158G>A | ||
| ENST00000638117.1:n.111+18158G>A | ||
| ENST00000361727.7:c.208+18158G>A | ENSP00000354778.3:n.208+18158G>A | |
| ENST00000625365.2:c.208+18158G>A | ENSP00000485955.1:n.208+18158G>A | |
| NM_014141.5:c.208+18158G>A | NP_054860.1:n.208+18158G>A | |
| XM_017011950.2:c.208+18158G>A | XP_016867439.1:n.208+18158G>A | |
| NM_014141.6:c.208+18158G>A MANE Select | NP_054860.1:n.208+18158G>A |