Linked Data
ClinVar Variation Id:
246064
ClinVar RCV Id:
RCV000235234
dbSNP Id:
rs879254073
gnomAD v3:
16-70255807-G-A
gnomAD v4:
16-70255807-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255807G>A , CM000678.2:g.70255807G>A | GRCh38 |
| NC_000016.9:g.70289710G>A , CM000678.1:g.70289710G>A | GRCh37 |
| NC_000016.8:g.68847211G>A | NCBI36 |
| NG_023191.1:g.38703C>T , LRG_359:g.38703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2207C>T MANE Select | ENSP00000261772.8:p.Ala736Val | |
| ENST00000564359.6:n.2180C>T | ||
| ENST00000565361.3:c.2207C>T | ENSP00000455360.3:p.Ala736Val | |
| ENST00000674512.1:c.2186C>T | ENSP00000501613.1:p.Ala729Val | |
| ENST00000674652.1:c.*1996C>T | ENSP00000502620.1:n.*1996C>T | |
| ENST00000674691.1:c.2207C>T | ENSP00000502247.1:p.Ala736Val | |
| ENST00000674768.1:c.*462C>T | ENSP00000501679.1:n.*462C>T | |
| ENST00000674811.1:c.*400C>T | ENSP00000502055.1:n.*400C>T | |
| ENST00000674848.1:n.2256C>T | ||
| ENST00000674962.1:n.4561C>T | ||
| ENST00000674963.1:c.2207C>T | ENSP00000501924.1:p.Ala736Val | |
| ENST00000675035.1:c.2187C>T | ENSP00000502712.1:p.Ser729= | |
| ENST00000675045.1:c.2234C>T | ENSP00000502014.1:p.Ala745Val | |
| ENST00000675120.1:c.*517C>T | ENSP00000502823.1:n.*517C>T | |
| ENST00000675133.1:c.2180C>T | ENSP00000502230.1:p.Ala727Val | |
| ENST00000675270.1:n.2342C>T | ||
| ENST00000675297.1:c.*559C>T | ENSP00000502753.1:n.*559C>T | |
| ENST00000675371.1:c.2022C>T | ENSP00000502645.1:p.Ser674= | |
| ENST00000675403.1:n.3127C>T | ||
| ENST00000675569.1:c.*1441C>T | ENSP00000502534.1:n.*1441C>T | |
| ENST00000675643.1:c.2207C>T | ENSP00000502797.1:p.Ala736Val | |
| ENST00000675691.1:c.2078C>T | ENSP00000502196.1:p.Ala693Val | |
| ENST00000675751.1:c.*1234C>T | ENSP00000502277.1:n.*1234C>T | |
| ENST00000675853.1:c.2207C>T | ENSP00000502367.1:p.Ala736Val | |
| ENST00000675917.1:n.2504C>T | ||
| ENST00000675953.1:c.2123C>T | ENSP00000502321.1:p.Ala708Val | |
| ENST00000675986.1:n.2365C>T | ||
| ENST00000676004.1:c.*2206C>T | ENSP00000502765.1:n.*2206C>T | |
| ENST00000676040.1:c.*1441C>T | ENSP00000502108.1:n.*1441C>T | |
| ENST00000676065.1:n.524C>T | ||
| ENST00000676168.1:c.2022C>T | ENSP00000502479.1:p.Ser674= | |
| ENST00000676209.1:c.*559C>T | ENSP00000502052.1:n.*559C>T | |
| ENST00000676211.1:c.*1234C>T | ENSP00000502726.1:n.*1234C>T | |
| ENST00000676212.1:c.2207C>T | ENSP00000501853.1:p.Ala736Val | |
| ENST00000676247.1:c.*559C>T | ENSP00000502699.1:n.*559C>T | |
| ENST00000261772.12:c.2207C>T | ENSP00000261772.7:p.Ala736Val | |
| ENST00000564359.5:n.518C>T | ||
| ENST00000565361.2:c.552C>T | ||
| ENST00000569825.1:n.213C>T | ||
| NM_001605.2:c.2207C>T , LRG_359t1:c.2207C>T | NP_001596.2:p.Ala736Val | |
| XR_933220.1:n.2173C>T | ||
| XR_933220.3:n.2132C>T | ||
| NM_001605.3:c.2207C>T MANE Select | NP_001596.2:p.Ala736Val |