Linked Data
dbSNP Id:
rs1370358039
gnomAD v2:
7-146475216-C-G
gnomAD v3:
7-146778124-C-G
gnomAD v4:
7-146778124-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146778124C>G , CM000669.2:g.146778124C>G | GRCh38 |
| NC_000007.13:g.146475216C>G , CM000669.1:g.146475216C>G | GRCh37 |
| NC_000007.12:g.146106149C>G | NCBI36 |
| NG_007092.2:g.666764C>G | |
| NG_007092.3:g.667124C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.208+3743C>G MANE Select | ENSP00000354778.3:n.208+3743C>G | |
| ENST00000636277.1:n.75+3743C>G | ||
| ENST00000636561.1:n.111+3743C>G | ||
| ENST00000636600.1:n.58+3743C>G | ||
| ENST00000637150.1:n.137+3743C>G | ||
| ENST00000637694.1:n.111+3743C>G | ||
| ENST00000638117.1:n.111+3743C>G | ||
| ENST00000361727.7:c.208+3743C>G | ENSP00000354778.3:n.208+3743C>G | |
| ENST00000625365.2:c.208+3743C>G | ENSP00000485955.1:n.208+3743C>G | |
| NM_014141.5:c.208+3743C>G | NP_054860.1:n.208+3743C>G | |
| XM_017011950.2:c.208+3743C>G | XP_016867439.1:n.208+3743C>G | |
| NM_014141.6:c.208+3743C>G MANE Select | NP_054860.1:n.208+3743C>G |