Linked Data
ClinVar Variation Id:
13344
ClinVar RCV Id:
RCV000014272
RCV000033554
RCV000210036
RCV000520822
RCV000586289
RCV000824752
RCV001254107
RCV002286696
RCV004541003
dbSNP Id:
rs121918470
ERepo:
CA256758/MONDO:0007893/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489105A>C , CM000674.2:g.112489105A>C | GRCh38 |
| NC_000012.11:g.112926909A>C , CM000674.1:g.112926909A>C | GRCh37 |
| NC_000012.10:g.111411292A>C | NCBI36 |
| NG_007459.1:g.75374A>C , LRG_614:g.75374A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1529A>C | ENSP00000491593.2:p.Gln510Pro | |
| ENST00000685487.1:c.1529A>C | ENSP00000508503.1:p.Gln510Pro | |
| ENST00000687624.1:n.194A>C | ||
| ENST00000687906.1:c.1415A>C | ENSP00000509536.1:p.Gln472Pro | |
| ENST00000688597.1:c.1224+6900A>C | ENSP00000510628.1:n.1224+6900A>C | |
| ENST00000688701.1:n.773A>C | ||
| ENST00000690210.1:c.1529A>C | ENSP00000509272.1:p.Gln510Pro | |
| ENST00000690472.1:n.738A>C | ||
| ENST00000692624.1:c.*75A>C | ENSP00000508953.1:n.*75A>C | |
| ENST00000351677.7:c.1529A>C MANE Select | ENSP00000340944.3:p.Gln510Pro | |
| ENST00000351677.6:c.1529A>C | ENSP00000340944.2:p.Gln510Pro | |
| ENST00000635625.1:c.1541A>C | ENSP00000489597.1:p.Gln514Pro | |
| ENST00000635652.1:c.542A>C | ENSP00000489541.1:p.Gln181Pro | |
| NM_002834.3:c.1529A>C , LRG_614t1:c.1529A>C | NP_002825.3:p.Gln510Pro | |
| XM_006719526.1:c.1541A>C | XP_006719589.1:p.Gln514Pro | |
| XM_006719527.1:c.1427A>C | XP_006719590.1:p.Gln476Pro | |
| XM_011538613.1:c.1538A>C | XP_011536915.1:p.Gln513Pro | |
| NM_001330437.1:c.1541A>C | NP_001317366.1:p.Gln514Pro | |
| NM_002834.4:c.1529A>C | NP_002825.3:p.Gln510Pro | |
| XM_011538613.2:c.1538A>C | XP_011536915.1:p.Gln513Pro | |
| XM_017019722.1:c.1526A>C | XP_016875211.1:p.Gln509Pro | |
| NM_001330437.2:c.1541A>C | NP_001317366.1:p.Gln514Pro | |
| NM_001374625.1:c.1526A>C | NP_001361554.1:p.Gln509Pro | |
| NM_002834.5:c.1529A>C MANE Select | NP_002825.3:p.Gln510Pro |