Linked Data
ClinVar Variation Id:
243011
ClinVar RCV Id:
RCV000235003
dbSNP Id:
rs769677823
PubMed:
PMID:26138117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63623777C>T , CM000677.2:g.63623777C>T | GRCh38 |
| NC_000015.9:g.63915976C>T , CM000677.1:g.63915976C>T | GRCh37 |
| NC_000015.8:g.61703029C>T | NCBI36 |
| NG_046958.1:g.215173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443617.7:c.13559G>A MANE Select | ENSP00000390158.2:p.Gly4520Glu | |
| ENST00000443617.6:c.13559G>A | ENSP00000390158.2:p.Gly4520Glu | |
| ENST00000558324.1:c.722G>A | ||
| NM_003922.3:c.13559G>A | NP_003913.3:p.Gly4520Glu | |
| XM_011522138.1:c.13637G>A | XP_011520440.1:p.Gly4546Glu | |
| XM_011522139.1:c.13637G>A | XP_011520441.1:p.Gly4546Glu | |
| XM_011522140.1:c.13637G>A | XP_011520442.1:p.Gly4546Glu | |
| XM_011522141.1:c.13634G>A | XP_011520443.1:p.Gly4545Glu | |
| XM_011522142.1:c.13634G>A | XP_011520444.1:p.Gly4545Glu | |
| XM_011522143.1:c.13634G>A | XP_011520445.1:p.Gly4545Glu | |
| XM_011522144.1:c.13616G>A | XP_011520446.1:p.Gly4539Glu | |
| XM_011522145.1:c.13613G>A | XP_011520447.1:p.Gly4538Glu | |
| XM_011522146.1:c.13610G>A | XP_011520448.1:p.Gly4537Glu | |
| XM_011522147.1:c.13586G>A | XP_011520449.1:p.Gly4529Glu | |
| XM_011522148.1:c.13637G>A | XP_011520450.1:p.Gly4546Glu | |
| XR_931932.1:n.13668+381G>A | ||
| XM_017022699.2:c.13703G>A | XP_016878188.1:p.Gly4568Glu | |
| XM_017022700.2:c.13667G>A | XP_016878189.1:p.Gly4556Glu | |
| XM_017022701.2:c.13652G>A | XP_016878190.1:p.Gly4551Glu | |
| XM_017022702.2:c.13652G>A | XP_016878191.1:p.Gly4551Glu | |
| XM_017022703.2:c.13649G>A | XP_016878192.1:p.Gly4550Glu | |
| XM_017022704.2:c.13631G>A | XP_016878193.1:p.Gly4544Glu | |
| XM_017022705.2:c.13625G>A | XP_016878194.1:p.Gly4542Glu | |
| NM_003922.4:c.13559G>A MANE Select | NP_003913.3:p.Gly4520Glu |