Linked Data
ClinVar Variation Id:
376533
ClinVar RCV Id:
RCV000423295
RCV000424642
RCV000425258
RCV000433609
RCV000436411
RCV000444087
RCV000444245
dbSNP Id:
rs1057519960
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66063413A>G , CM000673.2:g.66063413A>G | GRCh38 |
| NC_000011.9:g.65830884A>G , CM000673.1:g.65830884A>G | GRCh37 |
| NC_000011.8:g.65587460A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322535.11:c.2099A>G MANE Select | ENSP00000318861.6:p.Glu700Gly | |
| ENST00000322535.10:c.2099A>G | ENSP00000318861.6:p.Glu700Gly | |
| ENST00000528302.5:c.2048A>G | ENSP00000432655.1:p.Glu683Gly | |
| ENST00000530981.1:c.361A>G | ||
| ENST00000610523.4:c.2027A>G | ENSP00000482986.1:p.Glu676Gly | |
| NM_006842.2:c.2099A>G | NP_006833.2:p.Glu700Gly | |
| XM_005273726.2:c.2096A>G | XP_005273783.1:p.Glu699Gly | |
| XM_011544740.1:c.2096A>G | XP_011543042.1:p.Glu699Gly | |
| XM_005273726.4:c.2096A>G | XP_005273783.1:p.Glu699Gly | |
| XM_011544740.3:c.2096A>G | XP_011543042.1:p.Glu699Gly | |
| XM_017017144.2:c.2093A>G | XP_016872633.1:p.Glu698Gly | |
| NM_006842.3:c.2099A>G MANE Select | NP_006833.2:p.Glu700Gly |