Linked Data
ClinVar Variation Id:
161529
ClinVar RCV Id:
RCV000149064
dbSNP Id:
rs193920782
gnomAD v4:
15-66333236-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66333236G>A , CM000677.2:g.66333236G>A | GRCh38 |
| NC_000015.9:g.66625574G>A , CM000677.1:g.66625574G>A | GRCh37 |
| NC_000015.8:g.64412628G>A | NCBI36 |
| NG_050688.1:g.44981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319212.9:c.3089G>A MANE Select | ENSP00000321711.4:p.Gly1030Glu | |
| ENST00000319194.9:c.2840G>A | ENSP00000321583.5:p.Gly947Glu | |
| ENST00000319212.8:c.3089G>A | ENSP00000321711.4:p.Gly1030Glu | |
| ENST00000530537.1:c.*2599G>A | ENSP00000432407.1:n.*2599G>A | |
| NM_001143688.1:c.3089G>A | NP_001137160.1:p.Gly1030Glu | |
| NM_133375.3:c.2840G>A | NP_588616.1:p.Gly947Glu | |
| XM_005254144.2:c.3038G>A | XP_005254201.1:p.Gly1013Glu | |
| XM_005254145.2:c.2840G>A | XP_005254202.1:p.Gly947Glu | |
| XM_005254147.3:c.2840G>A | XP_005254204.1:p.Gly947Glu | |
| NM_001143688.2:c.3089G>A | NP_001137160.1:p.Gly1030Glu | |
| NM_001323936.1:c.2840G>A | NP_001310865.1:p.Gly947Glu | |
| NM_001323937.1:c.2711G>A | NP_001310866.1:p.Gly904Glu | |
| NM_001323938.1:c.2687G>A | NP_001310867.1:p.Gly896Glu | |
| NM_001323939.1:c.2687G>A | NP_001310868.1:p.Gly896Glu | |
| NM_001323940.1:c.1979G>A | NP_001310869.1:p.Gly660Glu | |
| NM_001323941.1:c.2687G>A | NP_001310870.1:p.Gly896Glu | |
| NM_001323943.1:c.1979G>A | NP_001310872.1:p.Gly660Glu | |
| NM_001323944.1:c.3038G>A | NP_001310873.1:p.Gly1013Glu | |
| NM_001323945.1:c.2840G>A | NP_001310874.1:p.Gly947Glu | |
| NM_001323946.1:c.2687G>A | NP_001310875.1:p.Gly896Glu | |
| NM_001323948.1:c.2909G>A | NP_001310877.1:p.Gly970Glu | |
| NM_133375.4:c.2840G>A | NP_588616.1:p.Gly947Glu | |
| NM_001143688.3:c.3089G>A MANE Select | NP_001137160.1:p.Gly1030Glu | |
| NM_001323936.2:c.2840G>A | NP_001310865.1:p.Gly947Glu | |
| NM_001323937.2:c.2711G>A | NP_001310866.1:p.Gly904Glu | |
| NM_001323938.2:c.2687G>A | NP_001310867.1:p.Gly896Glu | |
| NM_001323939.2:c.2687G>A | NP_001310868.1:p.Gly896Glu | |
| NM_001323940.2:c.1979G>A | NP_001310869.1:p.Gly660Glu | |
| NM_001323941.2:c.2687G>A | NP_001310870.1:p.Gly896Glu | |
| NM_001323943.2:c.1979G>A | NP_001310872.1:p.Gly660Glu | |
| NM_001323944.2:c.3038G>A | NP_001310873.1:p.Gly1013Glu | |
| NM_001323945.2:c.2840G>A | NP_001310874.1:p.Gly947Glu | |
| NM_001323946.2:c.2687G>A | NP_001310875.1:p.Gly896Glu | |
| NM_001323948.2:c.2909G>A | NP_001310877.1:p.Gly970Glu | |
| NM_133375.5:c.2840G>A | NP_588616.1:p.Gly947Glu |