Linked Data
dbSNP Id:
rs753381450
ExAC:
7:93055823 G / C
gnomAD v2:
7-93055823-G-C
gnomAD v3:
7-93426511-G-C
gnomAD v4:
7-93426511-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93426511G>C , CM000669.2:g.93426511G>C | GRCh38 |
| NC_000007.13:g.93055823G>C , CM000669.1:g.93055823G>C | GRCh37 |
| NC_000007.12:g.92893759G>C | NCBI36 |
| NG_013005.1:g.153220C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426151.7:c.1270C>G MANE Select | ENSP00000389295.1:p.Arg424Gly | |
| ENST00000649521.1:c.1318C>G | ENSP00000497687.1:p.Arg440Gly | |
| ENST00000359558.6:c.1372C>G | ENSP00000352561.2:p.Arg458Gly | |
| ENST00000360249.8:c.*780C>G | ENSP00000353385.5:n.*780C>G | |
| ENST00000394441.5:c.1270C>G | ENSP00000377959.1:p.Arg424Gly | |
| ENST00000415529.2:c.1320C>G | ENSP00000413179.1:n.1320C>G | |
| ENST00000421592.5:c.1318C>G | ENSP00000399552.1:p.Arg440Gly | |
| ENST00000423724.5:c.1368C>G | ENSP00000391369.1:n.1368C>G | |
| ENST00000426151.5:c.1270C>G | ENSP00000389295.1:p.Arg424Gly | |
| NM_001164737.1:c.1372C>G | NP_001158209.1:p.Arg458Gly | |
| NM_001164738.1:c.1270C>G | NP_001158210.1:p.Arg424Gly | |
| NM_001742.3:c.1270C>G | NP_001733.1:p.Arg424Gly | |
| NM_001164737.2:c.1318C>G | NP_001158209.2:p.Arg440Gly | |
| NM_001742.4:c.1270C>G MANE Select | NP_001733.1:p.Arg424Gly | |
| NM_001164737.3:c.1318C>G | NP_001158209.2:p.Arg440Gly | |
| NM_001164738.2:c.1270C>G | NP_001158210.1:p.Arg424Gly |