Linked Data
ClinVar Variation Id:
218603
ClinVar RCV Id:
RCV000202957
RCV000330776
RCV000528045
RCV000767054
RCV001173346
RCV001336447
RCV002399756
dbSNP Id:
rs148095551
ExAC:
11:68682346 C / G
gnomAD v2:
11-68682346-C-G
gnomAD v3:
11-68914878-C-G
gnomAD v4:
11-68914878-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914878C>G , CM000673.2:g.68914878C>G | GRCh38 |
| NC_000011.9:g.68682346C>G , CM000673.1:g.68682346C>G | GRCh37 |
| NC_000011.8:g.68438922C>G | NCBI36 |
| NG_007976.1:g.16028C>G , LRG_250:g.16028C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.767C>G MANE Select | ENSP00000255078.4:p.Ala256Gly | |
| ENST00000539224.2:c.896C>G | ||
| ENST00000674955.1:c.767C>G | ENSP00000502463.1:p.Ala256Gly | |
| ENST00000675118.1:c.114C>G | ||
| ENST00000675119.1:c.56C>G | ENSP00000501861.1:p.Ala19Gly | |
| ENST00000675305.1:c.56C>G | ENSP00000502365.1:p.Ala19Gly | |
| ENST00000675464.1:c.56C>G | ENSP00000502650.1:p.Ala19Gly | |
| ENST00000675615.1:c.767C>G | ENSP00000502413.1:p.Ala256Gly | |
| ENST00000675683.1:c.154C>G | ||
| ENST00000676173.1:n.811C>G | ||
| ENST00000676228.1:c.*90C>G | ENSP00000502375.1:n.*90C>G | |
| ENST00000676239.1:n.81C>G | ||
| ENST00000255078.7:c.767C>G | ENSP00000255078.3:p.Ala256Gly | |
| ENST00000539224.1:c.*90C>G | ENSP00000440465.1:n.*90C>G | |
| NM_002180.2:c.767C>G , LRG_250t1:c.767C>G | NP_002171.2:p.Ala256Gly | |
| XM_005273974.2:c.-245C>G | XP_005274031.1:n.-245C>G | |
| XM_005273976.1:c.767C>G | XP_005274033.1:p.Ala256Gly | |
| XR_247198.1:n.869C>G | ||
| XR_949903.1:n.869C>G | ||
| XM_005273976.2:c.767C>G | XP_005274033.1:p.Ala256Gly | |
| XM_017017669.2:c.-245C>G | XP_016873158.1:n.-245C>G | |
| XM_017017670.2:c.-245C>G | XP_016873159.1:n.-245C>G | |
| XM_017017671.2:c.767C>G | XP_016873160.1:p.Ala256Gly | |
| XR_949903.3:n.865C>G | ||
| NM_002180.3:c.767C>G MANE Select | NP_002171.2:p.Ala256Gly |