Linked Data
ClinVar Variation Id:
177937
ClinVar RCV Id:
RCV000154596
RCV000172516
RCV000245171
RCV000768742
RCV001085915
RCV001097371
RCV001256796
RCV003945212
dbSNP Id:
rs149433837
ExAC:
1:236920792 C / A
gnomAD v2:
1-236920792-C-A
gnomAD v3:
1-236757492-C-A
gnomAD v4:
1-236757492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236757492C>A , CM000663.2:g.236757492C>A | GRCh38 |
| NC_000001.10:g.236920792C>A , CM000663.1:g.236920792C>A | GRCh37 |
| NC_000001.9:g.234987415C>A | NCBI36 |
| NG_009081.1:g.76023C>A | |
| NG_009081.2:g.98352C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.2161C>A | ENSP00000443495.1:p.Arg721Ser | |
| ENST00000461367.2:n.457C>A | ||
| ENST00000492634.7:n.2091C>A | ||
| ENST00000682015.1:c.2068C>A | ENSP00000506961.1:p.Arg690Ser | |
| ENST00000682490.1:n.79C>A | ||
| ENST00000682692.1:n.3256C>A | ||
| ENST00000682966.1:n.7802C>A | ||
| ENST00000683111.1:c.*1447C>A | ENSP00000507913.1:n.*1447C>A | |
| ENST00000683322.1:n.3513C>A | ||
| ENST00000683805.1:n.952C>A | ||
| ENST00000684050.1:n.4799C>A | ||
| ENST00000684122.1:n.308C>A | ||
| ENST00000684286.1:n.3716C>A | ||
| ENST00000684502.1:n.3458C>A | ||
| ENST00000684763.1:n.776C>A | ||
| ENST00000366578.6:c.2161C>A MANE Select | ENSP00000355537.4:p.Arg721Ser | |
| ENST00000492634.6:n.2091C>A | ||
| ENST00000542672.6:c.2161C>A | ENSP00000443495.1:p.Arg721Ser | |
| ENST00000651091.1:c.1851C>A | ENSP00000498677.1:n.1851C>A | |
| ENST00000651275.1:c.2053C>A | ENSP00000498926.1:p.Arg685Ser | |
| ENST00000651781.1:c.1241C>A | ||
| ENST00000651786.1:c.*1533C>A | ENSP00000498364.1:n.*1533C>A | |
| ENST00000652096.1:c.*1566C>A | ENSP00000498896.1:n.*1566C>A | |
| ENST00000366578.5:c.2161C>A | ENSP00000355537.4:p.Arg721Ser | |
| ENST00000461367.1:n.370C>A | ||
| ENST00000542672.5:c.2161C>A | ENSP00000443495.1:p.Arg721Ser | |
| ENST00000546208.5:c.1537C>A | ENSP00000438384.2:p.Arg513Ser | |
| NM_001103.3:c.2161C>A | NP_001094.1:p.Arg721Ser | |
| NM_001278343.1:c.2161C>A | NP_001265272.1:p.Arg721Ser | |
| NM_001278344.1:c.1537C>A | NP_001265273.1:p.Arg513Ser | |
| NM_001278343.2:c.2161C>A | NP_001265272.1:p.Arg721Ser | |
| NM_001103.4:c.2161C>A MANE Select | NP_001094.1:p.Arg721Ser | |
| NM_001278344.2:c.1537C>A | NP_001265273.1:p.Arg513Ser |