Linked Data
ClinVar Variation Id:
138242
ClinVar RCV Id:
RCV000126797
RCV000303851
RCV000396629
RCV000396637
RCV000469826
RCV000576698
RCV001093887
RCV001093886
dbSNP Id:
rs16832790
ExAC:
1:161275943 C / T
gnomAD v2:
1-161275943-C-T
gnomAD v3:
1-161306153-C-T
gnomAD v4:
1-161306153-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306153C>T , CM000663.2:g.161306153C>T | GRCh38 |
| NC_000001.10:g.161275943C>T , CM000663.1:g.161275943C>T | GRCh37 |
| NC_000001.9:g.159542567C>T | NCBI36 |
| NG_008055.1:g.8820G>A , LRG_256:g.8820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.519G>A | ENSP00000488104.2:p.Gly173= | |
| ENST00000533357.5:c.600G>A MANE Select | ENSP00000432943.1:p.Gly200= | |
| ENST00000672287.2:c.12G>A | ENSP00000499818.2:p.Gly4= | |
| ENST00000672602.2:c.600G>A | ENSP00000500814.2:p.Gly200= | |
| ENST00000674861.1:n.663G>A | ||
| ENST00000463290.5:c.600G>A | ENSP00000431538.1:p.Gly200= | |
| ENST00000476410.1:n.60G>A | ||
| ENST00000488271.1:n.38G>A | ||
| ENST00000491222.5:c.12G>A | ENSP00000431441.1:p.Gly4= | |
| ENST00000526189.2:c.263G>A | ||
| ENST00000533357.4:c.600G>A | ENSP00000432943.1:p.Gly200= | |
| NM_000530.6:c.600G>A , LRG_256t1:c.600G>A | NP_000521.2:p.Gly200= | |
| NM_000530.7:c.600G>A | NP_000521.2:p.Gly200= | |
| NM_001315491.1:c.600G>A | NP_001302420.1:p.Gly200= | |
| XM_017001321.2:c.630G>A | XP_016856810.1:p.Gly210= | |
| NM_000530.8:c.600G>A MANE Select | NP_000521.2:p.Gly200= | |
| NM_001315491.2:c.600G>A | NP_001302420.1:p.Gly200= |