Linked Data
ClinVar Variation Id:
11467
ClinVar RCV Id:
RCV000012222
dbSNP Id:
rs137853331
PubMed:
PMID:16818673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154563590A>C , CM000685.2:g.154563590A>C | GRCh38 |
| NC_000023.10:g.153791805A>C , CM000685.1:g.153791805A>C | GRCh37 |
| NC_000023.9:g.153444999A>C | NCBI36 |
| NG_009896.1:g.26347A>C , LRG_70:g.26347A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413620.6:c.908A>C | ENSP00000398579.2:p.Glu303Ala | |
| ENST00000422680.6:c.944A>C | ENSP00000390368.3:p.Glu315Ala | |
| ENST00000440286.6:c.944A>C | ENSP00000394934.2:p.Glu315Ala | |
| ENST00000445622.6:c.944A>C | ENSP00000395205.2:p.Glu315Ala | |
| ENST00000615186.5:c.542A>C | ENSP00000479144.2:p.Glu181Ala | |
| ENST00000686774.1:c.*325A>C | ENSP00000510218.1:n.*325A>C | |
| ENST00000687445.1:n.2341A>C | ||
| ENST00000689906.1:c.791A>C | ENSP00000508630.1:p.Glu264Ala | |
| ENST00000692948.1:c.1001A>C | ENSP00000508773.1:p.Glu334Ala | |
| ENST00000693029.1:n.2344A>C | ||
| ENST00000594239.6:c.944A>C MANE Select | ENSP00000471166.1:p.Glu315Ala | |
| ENST00000594239.5:c.944A>C | ENSP00000471166.1:p.Glu315Ala | |
| ENST00000611071.4:c.944A>C | ENSP00000479662.1:p.Glu315Ala | |
| ENST00000611176.4:c.647A>C | ENSP00000478616.1:p.Glu216Ala | |
| ENST00000612051.1:c.*936A>C | ENSP00000480431.1:n.*936A>C | |
| ENST00000615874.4:c.920A>C | ENSP00000483381.1:p.Glu307Ala | |
| ENST00000617207.4:c.941A>C | ENSP00000484023.1:p.Glu314Ala | |
| ENST00000618670.4:c.1148A>C | ENSP00000483825.1:p.Glu383Ala | |
| ENST00000619941.4:c.923A>C | ENSP00000478979.1:p.Glu308Ala | |
| NM_001099856.3:c.1148A>C | NP_001093326.2:p.Glu383Ala | |
| NM_001099857.2:c.944A>C | NP_001093327.1:p.Glu315Ala | |
| NM_001145255.2:c.647A>C | NP_001138727.1:p.Glu216Ala | |
| NM_003639.4:c.944A>C | NP_003630.1:p.Glu315Ala | |
| XM_005274760.3:c.1145A>C | XP_005274817.1:p.Glu382Ala | |
| XM_005274761.3:c.1148A>C | XP_005274818.1:p.Glu383Ala | |
| XM_005274764.3:c.941A>C | XP_005274821.1:p.Glu314Ala | |
| XM_011531203.1:c.995A>C | XP_011529505.1:p.Glu332Ala | |
| XM_011531204.1:c.944A>C | XP_011529506.1:p.Glu315Ala | |
| XM_011531205.1:c.944A>C | XP_011529507.1:p.Glu315Ala | |
| NM_001099856.4:c.1148A>C | NP_001093326.2:p.Glu383Ala | |
| NM_001321396.1:c.944A>C | NP_001308325.1:p.Glu315Ala | |
| NM_001321397.1:c.941A>C | NP_001308326.1:p.Glu314Ala | |
| NM_001099856.6:c.1148A>C | NP_001093326.2:p.Glu383Ala | |
| NM_001099857.4:c.944A>C | NP_001093327.1:p.Glu315Ala | |
| NM_001145255.4:c.647A>C | NP_001138727.1:p.Glu216Ala | |
| NM_001321396.3:c.944A>C | NP_001308325.1:p.Glu315Ala | |
| NM_001321397.3:c.941A>C | NP_001308326.1:p.Glu314Ala | |
| NM_001377312.1:c.944A>C | NP_001364241.1:p.Glu315Ala | |
| NM_001377313.1:c.941A>C | NP_001364242.1:p.Glu314Ala | |
| NM_001377314.1:c.788A>C | NP_001364243.1:p.Glu263Ala | |
| NM_001377315.1:c.575A>C | NP_001364244.1:p.Glu192Ala | |
| NR_165197.1:n.813A>C | ||
| NM_001099857.5:c.944A>C MANE Select | NP_001093327.1:p.Glu315Ala |