Linked Data
ClinVar Variation Id:
136493
ClinVar RCV Id:
RCV000154685
RCV000206098
RCV000619333
RCV001529833
RCV000287010
RCV000344400
RCV003486654
dbSNP Id:
rs112929734
ExAC:
10:121431808 C / G
gnomAD v2:
10-121431808-C-G
gnomAD v3:
10-119672296-C-G
gnomAD v4:
10-119672296-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672296C>G , CM000672.2:g.119672296C>G | GRCh38 |
| NC_000010.10:g.121431808C>G , CM000672.1:g.121431808C>G | GRCh37 |
| NC_000010.9:g.121421798C>G | NCBI36 |
| NG_016125.1:g.25927C>G , LRG_742:g.25927C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.549C>G MANE Select | ENSP00000358081.4:p.Ser183= | |
| ENST00000369085.7:c.549C>G | ENSP00000358081.3:p.Ser183= | |
| ENST00000450186.1:c.375C>G | ENSP00000410036.1:p.Ser125= | |
| NM_004281.3:c.549C>G , LRG_742t1:c.549C>G | NP_004272.2:p.Ser183= | |
| XM_005270287.1:c.549C>G | XP_005270344.1:p.Ser183= | |
| XM_005270287.2:c.549C>G | XP_005270344.1:p.Ser183= | |
| NM_004281.4:c.549C>G MANE Select | NP_004272.2:p.Ser183= |