Linked Data
dbSNP Id:
rs752051727
ExAC:
4:155490776 G / A
gnomAD v2:
4-155490776-G-A
gnomAD v4:
4-154569624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569624G>A , CM000666.2:g.154569624G>A | GRCh38 |
| NC_000004.11:g.155490776G>A , CM000666.1:g.155490776G>A | GRCh37 |
| NC_000004.10:g.155710226G>A | NCBI36 |
| NG_008833.1:g.11645G>A , LRG_558:g.11645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1069G>A MANE Select | ENSP00000306099.4:p.Gly357Arg | |
| ENST00000302068.8:c.1069G>A | ENSP00000306099.4:p.Gly357Arg | |
| ENST00000502545.5:n.939+317G>A | ||
| ENST00000509493.1:c.412G>A | ENSP00000426757.1:p.Gly138Arg | |
| NM_001184741.1:c.892G>A | NP_001171670.1:p.Gly298Arg | |
| NM_005141.4:c.1069G>A , LRG_558t1:c.1069G>A | NP_005132.2:p.Gly357Arg | |
| NM_001382759.1:c.937G>A | NP_001369688.1:p.Gly313Arg | |
| NM_001382760.1:c.1069G>A | NP_001369689.1:p.Gly357Arg | |
| NM_001382761.1:c.1069G>A | NP_001369690.1:p.Gly357Arg | |
| NM_001382762.1:c.769G>A | NP_001369691.1:p.Gly257Arg | |
| NM_001382763.1:c.1060G>A | NP_001369692.1:p.Gly354Arg | |
| NM_001382764.1:c.1069G>A | NP_001369693.1:p.Gly357Arg | |
| NM_001382765.1:c.1069G>A | NP_001369694.1:p.Gly357Arg | |
| NM_005141.5:c.1069G>A MANE Select | NP_005132.2:p.Gly357Arg |