Linked Data
ClinVar Variation Id:
821983
ClinVar RCV Id:
RCV001016952
dbSNP Id:
rs754844454
ExAC:
11:94203642 C / G
gnomAD v2:
11-94203642-C-G
gnomAD v4:
11-94470476-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94470476C>G , CM000673.2:g.94470476C>G | GRCh38 |
| NC_000011.9:g.94203642C>G , CM000673.1:g.94203642C>G | GRCh37 |
| NC_000011.8:g.93843290C>G | NCBI36 |
| NG_007261.1:g.28399G>C , LRG_85:g.28399G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1012G>C MANE Select | ENSP00000325863.4:p.Glu338Gln | |
| ENST00000323929.7:c.1012G>C | ENSP00000325863.3:p.Glu338Gln | |
| ENST00000323977.7:c.1012G>C | ENSP00000326094.3:p.Glu338Gln | |
| ENST00000393241.8:c.1012G>C | ENSP00000376933.4:p.Glu338Gln | |
| ENST00000407439.7:c.1021G>C | ENSP00000385614.3:p.Glu341Gln | |
| NM_005590.3:c.1012G>C | NP_005581.2:p.Glu338Gln | |
| NM_005591.3:c.1012G>C , LRG_85t1:c.1012G>C | NP_005582.1:p.Glu338Gln | |
| XM_005274008.2:c.544G>C | XP_005274065.1:p.Glu182Gln | |
| XM_006718842.2:c.1012G>C | XP_006718905.1:p.Glu338Gln | |
| XM_011542837.1:c.1012G>C | XP_011541139.1:p.Glu338Gln | |
| XR_947828.1:n.1308G>C | ||
| NM_001330347.1:c.1012G>C | NP_001317276.1:p.Glu338Gln | |
| XM_005274008.3:c.544G>C | XP_005274065.1:p.Glu182Gln | |
| XM_006718842.3:c.1012G>C | XP_006718905.1:p.Glu338Gln | |
| XM_011542837.2:c.1012G>C | XP_011541139.1:p.Glu338Gln | |
| XM_017017772.1:c.1012G>C | XP_016873261.1:p.Glu338Gln | |
| XR_947828.2:n.1308G>C | ||
| NM_001330347.2:c.1012G>C | NP_001317276.1:p.Glu338Gln | |
| NM_005590.4:c.1012G>C | NP_005581.2:p.Glu338Gln | |
| NM_005591.4:c.1012G>C MANE Select | NP_005582.1:p.Glu338Gln |