Linked Data
ClinVar Variation Id:
40563
ClinVar RCV Id:
RCV000033550
RCV000055887
RCV000154371
RCV000157683
RCV001849289
RCV002390133
RCV004554638
RCV004541060
dbSNP Id:
rs397507548
COSMIC:
COSM1658770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489093A>C , CM000674.2:g.112489093A>C | GRCh38 |
| NC_000012.11:g.112926897A>C , CM000674.1:g.112926897A>C | GRCh37 |
| NC_000012.10:g.111411280A>C | NCBI36 |
| NG_007459.1:g.75362A>C , LRG_614:g.75362A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1517A>C | ENSP00000491593.2:p.Gln506Pro | |
| ENST00000685487.1:c.1517A>C | ENSP00000508503.1:p.Gln506Pro | |
| ENST00000687624.1:n.182A>C | ||
| ENST00000687906.1:c.1403A>C | ENSP00000509536.1:p.Gln468Pro | |
| ENST00000688597.1:c.1224+6888A>C | ENSP00000510628.1:n.1224+6888A>C | |
| ENST00000688701.1:n.761A>C | ||
| ENST00000690210.1:c.1517A>C | ENSP00000509272.1:p.Gln506Pro | |
| ENST00000690472.1:n.726A>C | ||
| ENST00000692624.1:c.*63A>C | ENSP00000508953.1:n.*63A>C | |
| ENST00000351677.7:c.1517A>C MANE Select | ENSP00000340944.3:p.Gln506Pro | |
| ENST00000351677.6:c.1517A>C | ENSP00000340944.2:p.Gln506Pro | |
| ENST00000635625.1:c.1529A>C | ENSP00000489597.1:p.Gln510Pro | |
| ENST00000635652.1:c.530A>C | ENSP00000489541.1:p.Gln177Pro | |
| NM_002834.3:c.1517A>C , LRG_614t1:c.1517A>C | NP_002825.3:p.Gln506Pro | |
| XM_006719526.1:c.1529A>C | XP_006719589.1:p.Gln510Pro | |
| XM_006719527.1:c.1415A>C | XP_006719590.1:p.Gln472Pro | |
| XM_011538613.1:c.1526A>C | XP_011536915.1:p.Gln509Pro | |
| NM_001330437.1:c.1529A>C | NP_001317366.1:p.Gln510Pro | |
| NM_002834.4:c.1517A>C | NP_002825.3:p.Gln506Pro | |
| XM_011538613.2:c.1526A>C | XP_011536915.1:p.Gln509Pro | |
| XM_017019722.1:c.1514A>C | XP_016875211.1:p.Gln505Pro | |
| NM_001330437.2:c.1529A>C | NP_001317366.1:p.Gln510Pro | |
| NM_001374625.1:c.1514A>C | NP_001361554.1:p.Gln505Pro | |
| NM_002834.5:c.1517A>C MANE Select | NP_002825.3:p.Gln506Pro |