Linked Data
ClinVar Variation Id:
1539583
ClinVar RCV Id:
RCV002154655
dbSNP Id:
rs2154001166
gnomAD v4:
11-68812535-A-G
MyVariant Identifiers:
chr11:g.68580003A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68812535A>G , CM000673.2:g.68812535A>G | GRCh38 |
| NC_000011.9:g.68580003A>G , CM000673.1:g.68580003A>G | GRCh37 |
| NC_000011.8:g.68336579A>G | NCBI36 |
| NG_011801.1:g.34397T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.183T>C MANE Select | ENSP00000265641.4:p.Ser61= | |
| ENST00000265641.9:c.183T>C | ENSP00000265641.4:p.Ser61= | |
| ENST00000376618.6:c.183T>C | ENSP00000365803.2:p.Ser61= | |
| ENST00000539743.5:c.183T>C | ENSP00000446108.1:p.Ser61= | |
| ENST00000540367.5:c.183T>C | ENSP00000439084.1:p.Ser61= | |
| ENST00000561996.1:c.183T>C | ENSP00000457663.1:p.Ser61= | |
| ENST00000565318.5:c.183T>C | ENSP00000457826.1:p.Ser61= | |
| ENST00000569129.5:c.183T>C | ENSP00000455116.1:p.Ser61= | |
| NM_001031847.2:c.183T>C | NP_001027017.1:p.Ser61= | |
| NM_001876.3:c.183T>C | NP_001867.2:p.Ser61= | |
| XM_005273762.1:c.279T>C | XP_005273819.1:p.Ser93= | |
| XM_005273763.1:c.279T>C | XP_005273820.1:p.Ser93= | |
| XM_005273762.3:c.279T>C | XP_005273819.1:p.Ser93= | |
| XM_017017220.1:c.183T>C | XP_016872709.1:p.Ser61= | |
| NM_001876.4:c.183T>C MANE Select | NP_001867.2:p.Ser61= | |
| NM_001031847.3:c.183T>C | NP_001027017.1:p.Ser61= |