Linked Data
ClinVar Variation Id:
183405
ClinVar RCV Id:
RCV000054405
RCV000207350
RCV000255048
RCV000508083
RCV001174556
RCV001265779
RCV001813418
dbSNP Id:
rs869025193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904498T>C , CM000663.2:g.155904498T>C | GRCh38 |
| NC_000001.10:g.155874289T>C , CM000663.1:g.155874289T>C | GRCh37 |
| NC_000001.9:g.154140913T>C | NCBI36 |
| NG_033885.1:g.11905A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.250A>G | ENSP00000476319.1:p.Ser84Gly | |
| ENST00000539040.6:c.134A>G | ENSP00000441950.1:p.Glu45Gly | |
| ENST00000704061.1:c.219A>G | ENSP00000515664.1:p.Arg73= | |
| ENST00000368323.8:c.242A>G MANE Select | ENSP00000357306.3:p.Glu81Gly | |
| ENST00000651833.1:c.242A>G | ENSP00000498732.1:p.Glu81Gly | |
| ENST00000651853.1:c.245A>G | ENSP00000498685.1:p.Glu82Gly | |
| ENST00000368322.7:c.293A>G | ENSP00000357305.3:p.Glu98Gly | |
| ENST00000368323.7:c.242A>G | ENSP00000357306.3:p.Glu81Gly | |
| ENST00000461050.5:c.250A>G | ENSP00000476319.1:p.Ser84Gly | |
| ENST00000539040.5:c.134A>G | ENSP00000441950.1:p.Glu45Gly | |
| ENST00000609492.1:c.242A>G | ENSP00000476612.1:p.Glu81Gly | |
| NM_001256820.1:c.134A>G | NP_001243749.1:p.Glu45Gly | |
| NM_001256821.1:c.293A>G | NP_001243750.1:p.Glu98Gly | |
| NM_006912.5:c.242A>G | NP_008843.1:p.Glu81Gly | |
| NM_001256820.2:c.134A>G | NP_001243749.1:p.Glu45Gly | |
| NM_001256821.2:c.293A>G | NP_001243750.1:p.Glu98Gly | |
| NM_006912.6:c.242A>G MANE Select | NP_008843.1:p.Glu81Gly |