Linked Data
ClinVar Variation Id:
40567
ClinVar RCV Id:
RCV000077854
RCV000521890
RCV002399355
RCV002490449
RCV003147313
RCV003147314
RCV003147312
RCV004532497
dbSNP Id:
rs397507550
COSMIC:
COSM1318058
ERepo:
CA220143/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489106G>C , CM000674.2:g.112489106G>C | GRCh38 |
| NC_000012.11:g.112926910G>C , CM000674.1:g.112926910G>C | GRCh37 |
| NC_000012.10:g.111411293G>C | NCBI36 |
| NG_007459.1:g.75375G>C , LRG_614:g.75375G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1530G>C | ENSP00000491593.2:p.Gln510His | |
| ENST00000685487.1:c.1530G>C | ENSP00000508503.1:p.Gln510His | |
| ENST00000687624.1:n.195G>C | ||
| ENST00000687906.1:c.1416G>C | ENSP00000509536.1:p.Gln472His | |
| ENST00000688597.1:c.1224+6901G>C | ENSP00000510628.1:n.1224+6901G>C | |
| ENST00000688701.1:n.774G>C | ||
| ENST00000690210.1:c.1530G>C | ENSP00000509272.1:p.Gln510His | |
| ENST00000690472.1:n.739G>C | ||
| ENST00000692624.1:c.*76G>C | ENSP00000508953.1:n.*76G>C | |
| ENST00000351677.7:c.1530G>C MANE Select | ENSP00000340944.3:p.Gln510His | |
| ENST00000351677.6:c.1530G>C | ENSP00000340944.2:p.Gln510His | |
| ENST00000635625.1:c.1542G>C | ENSP00000489597.1:p.Gln514His | |
| ENST00000635652.1:c.543G>C | ENSP00000489541.1:p.Gln181His | |
| NM_002834.3:c.1530G>C , LRG_614t1:c.1530G>C | NP_002825.3:p.Gln510His | |
| XM_006719526.1:c.1542G>C | XP_006719589.1:p.Gln514His | |
| XM_006719527.1:c.1428G>C | XP_006719590.1:p.Gln476His | |
| XM_011538613.1:c.1539G>C | XP_011536915.1:p.Gln513His | |
| NM_001330437.1:c.1542G>C | NP_001317366.1:p.Gln514His | |
| NM_002834.4:c.1530G>C | NP_002825.3:p.Gln510His | |
| XM_011538613.2:c.1539G>C | XP_011536915.1:p.Gln513His | |
| XM_017019722.1:c.1527G>C | XP_016875211.1:p.Gln509His | |
| NM_001330437.2:c.1542G>C | NP_001317366.1:p.Gln514His | |
| NM_001374625.1:c.1527G>C | NP_001361554.1:p.Gln509His | |
| NM_002834.5:c.1530G>C MANE Select | NP_002825.3:p.Gln510His |