Linked Data
ClinVar Variation Id:
463148
ClinVar RCV Id:
RCV000524685
dbSNP Id:
rs149425324
ExAC:
2:217340068 C / A
gnomAD v2:
2-217340068-C-A
gnomAD v4:
2-216475345-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216475345C>A , CM000664.2:g.216475345C>A | GRCh38 |
| NC_000002.11:g.217340068C>A , CM000664.1:g.217340068C>A | GRCh37 |
| NC_000002.10:g.217048313C>A | NCBI36 |
| NG_009771.1:g.67932C>A , LRG_108:g.67932C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.2321C>A | ENSP00000394410.2:p.Ser774Ter | |
| ENST00000430374.6:c.2321C>A | ENSP00000405077.2:p.Ser774Ter | |
| ENST00000444508.6:c.2321C>A | ENSP00000398969.2:p.Ser774Ter | |
| ENST00000697899.1:c.2087C>A | ENSP00000513470.1:p.Ser696Ter | |
| ENST00000697901.1:c.*1076C>A | ENSP00000513471.1:n.*1076C>A | |
| ENST00000697903.1:c.*808C>A | ENSP00000513472.1:n.*808C>A | |
| ENST00000697904.1:c.*808C>A | ENSP00000513473.1:n.*808C>A | |
| ENST00000697905.1:c.*808C>A | ENSP00000513474.1:n.*808C>A | |
| ENST00000697906.1:c.2087C>A | ENSP00000513475.1:p.Ser696Ter | |
| ENST00000697907.1:c.*1179C>A | ENSP00000513476.1:n.*1179C>A | |
| ENST00000697908.1:n.2015C>A | ||
| ENST00000697909.1:n.1213C>A | ||
| ENST00000697910.1:n.718C>A | ||
| ENST00000697911.1:n.627C>A | ||
| ENST00000357276.9:c.2321C>A MANE Select | ENSP00000349823.4:p.Ser774Ter | |
| ENST00000357276.8:c.2321C>A | ENSP00000349823.4:p.Ser774Ter | |
| ENST00000358207.9:c.2321C>A | ENSP00000350940.5:p.Ser774Ter | |
| ENST00000392128.6:c.1847C>A | ENSP00000375974.2:p.Ser616Ter | |
| NM_001127207.1:c.2321C>A | NP_001120679.1:p.Ser774Ter | |
| NM_014140.3:c.2321C>A , LRG_108t1:c.2321C>A | NP_054859.2:p.Ser774Ter | |
| XM_005246631.2:c.2321C>A | XP_005246688.1:p.Ser774Ter | |
| XM_005246632.1:c.2321C>A | XP_005246689.1:p.Ser774Ter | |
| XM_006712557.1:c.2255C>A | XP_006712620.1:p.Ser752Ter | |
| XM_005246632.2:c.2321C>A | XP_005246689.1:p.Ser774Ter | |
| XM_017004228.2:c.1409C>A | XP_016859717.1:p.Ser470Ter | |
| NM_001127207.2:c.2321C>A | NP_001120679.1:p.Ser774Ter | |
| NM_014140.4:c.2321C>A MANE Select | NP_054859.2:p.Ser774Ter |