Linked Data
ClinVar Variation Id:
642118
ClinVar RCV Id:
RCV000795514
dbSNP Id:
rs794727044
gnomAD v4:
7-150947860-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947860T>C , CM000669.2:g.150947860T>C | GRCh38 |
| NC_000007.13:g.150644948T>C , CM000669.1:g.150644948T>C | GRCh37 |
| NC_000007.12:g.150275881T>C | NCBI36 |
| NG_008916.1:g.35067A>G , LRG_288:g.35067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3544A>G | ||
| ENST00000262186.10:c.2711A>G MANE Select | ENSP00000262186.5:p.Glu904Gly | |
| ENST00000330883.9:c.1691A>G | ENSP00000328531.4:p.Glu564Gly | |
| ENST00000262186.9:c.2711A>G | ENSP00000262186.5:p.Glu904Gly | |
| ENST00000330883.8:c.1691A>G | ENSP00000328531.4:p.Glu564Gly | |
| NM_000238.3:c.2711A>G , LRG_288t1:c.2711A>G | NP_000229.1:p.Glu904Gly | |
| NM_172057.2:c.1691A>G , LRG_288t3:c.1691A>G | NP_742054.1:p.Glu564Gly | |
| XM_011516185.1:c.2411A>G | XP_011514487.1:p.Glu804Gly | |
| XM_011516186.1:c.2693-169A>G | XP_011514488.1:n.2693-169A>G | |
| XM_011516185.2:c.2411A>G | XP_011514487.1:p.Glu804Gly | |
| XM_011516186.3:c.2693-169A>G | XP_011514488.1:n.2693-169A>G | |
| XM_017012195.1:c.2561A>G | XP_016867684.1:p.Glu854Gly | |
| XM_017012196.1:c.2534A>G | XP_016867685.1:p.Glu845Gly | |
| NM_000238.4:c.2711A>G MANE Select | NP_000229.1:p.Glu904Gly | |
| NM_172057.3:c.1691A>G | NP_742054.1:p.Glu564Gly |