Linked Data
ClinVar Variation Id:
1009874
ClinVar RCV Id:
RCV001307428
dbSNP Id:
rs1892307322
MyVariant Identifiers:
chr14:g.105236681G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104770344G>C , CM000676.2:g.104770344G>C | GRCh38 |
| NC_000014.8:g.105236681G>C , CM000676.1:g.105236681G>C | GRCh37 |
| NC_000014.7:g.104307726G>C | NCBI36 |
| NG_012188.1:g.30401C>G , LRG_721:g.30401C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1341C>G | ENSP00000450681.3:p.Ala447= | |
| ENST00000554585.6:c.*266C>G | ENSP00000481526.2:n.*266C>G | |
| ENST00000555458.6:c.1363+401C>G | ENSP00000451470.3:n.1363+401C>G | |
| ENST00000553797.2:c.1515C>G | ENSP00000507566.1:p.Ala505= | |
| ENST00000554826.2:n.1909C>G | ||
| ENST00000610370.2:n.3426C>G | ||
| ENST00000683058.1:n.1317C>G | ||
| ENST00000683722.1:c.1440C>G | ENSP00000507879.1:p.Ala480= | |
| ENST00000684058.1:n.997C>G | ||
| ENST00000407796.7:c.1440C>G | ENSP00000384293.2:p.Ala480= | |
| ENST00000649815.2:c.1440C>G MANE Select | ENSP00000497822.1:p.Ala480= | |
| ENST00000349310.7:c.1440C>G | ENSP00000270202.4:p.Ala480= | |
| ENST00000402615.6:c.1440C>G | ENSP00000385326.2:p.Ala480= | |
| ENST00000407796.6:c.1440C>G | ENSP00000384293.2:p.Ala480= | |
| ENST00000544168.5:n.1375C>G | ||
| ENST00000553506.5:n.1838C>G | ||
| ENST00000554192.5:c.550C>G | ||
| ENST00000554581.5:c.1440C>G | ENSP00000451828.1:p.Ala480= | |
| ENST00000554585.5:c.707C>G | ENSP00000481526.1:n.707C>G | |
| ENST00000554848.5:c.1440C>G | ENSP00000451166.1:p.Ala480= | |
| ENST00000555458.5:c.470+401C>G | ||
| ENST00000555528.5:c.1440C>G | ENSP00000450688.1:p.Ala480= | |
| ENST00000557552.1:n.7404C>G | ||
| ENST00000610370.1:n.2195C>G | ||
| NM_001014431.1:c.1440C>G | NP_001014431.1:p.Ala480= | |
| NM_001014432.1:c.1440C>G , LRG_721t1:c.1440C>G | NP_001014432.1:p.Ala480= | |
| NM_005163.2:c.1440C>G , LRG_721t2:c.1440C>G | NP_005154.2:p.Ala480= | |
| XM_005267401.1:c.1440C>G | XP_005267458.1:p.Ala480= | |
| XM_011536543.1:c.1440C>G | XP_011534845.1:p.Ala480= | |
| XR_002957536.1:n.3157C>G | ||
| NM_001014431.2:c.1440C>G | NP_001014431.1:p.Ala480= | |
| NM_001014432.2:c.1440C>G | NP_001014432.1:p.Ala480= | |
| NM_001382430.1:c.1440C>G MANE Select | NP_001369359.1:p.Ala480= | |
| NM_001382431.1:c.1440C>G | NP_001369360.1:p.Ala480= | |
| NM_001382432.1:c.1440C>G | NP_001369361.1:p.Ala480= | |
| NM_001382433.1:c.1440C>G | NP_001369362.1:p.Ala480= |