Linked Data
ClinVar Variation Id:
2922310
ClinVar RCV Id:
RCV003785524
MyVariant Identifiers:
chr14:g.77745187T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278844T>C , CM000676.2:g.77278844T>C | GRCh38 |
| NC_000014.8:g.77745187T>C , CM000676.1:g.77745187T>C | GRCh37 |
| NC_000014.7:g.76814940T>C | NCBI36 |
| NG_008897.1:g.47039A>G , LRG_844:g.47039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.842A>G | ||
| ENST00000556394.2:c.1458A>G | ENSP00000451967.2:p.Gly486= | |
| ENST00000682128.1:c.218A>G | ENSP00000506976.1:n.218A>G | |
| ENST00000682247.1:c.1906A>G | ENSP00000507213.1:p.Arg636Gly | |
| ENST00000682395.1:n.2381A>G | ||
| ENST00000682459.1:n.1620A>G | ||
| ENST00000682467.1:c.1892-336A>G | ENSP00000508062.1:n.1892-336A>G | |
| ENST00000682615.1:n.271A>G | ||
| ENST00000682795.1:c.2064A>G | ENSP00000507574.1:p.Gly688= | |
| ENST00000682895.1:n.1633A>G | ||
| ENST00000682955.1:n.1491A>G | ||
| ENST00000683095.1:c.323A>G | ENSP00000508040.1:n.323A>G | |
| ENST00000683188.1:c.2178A>G | ||
| ENST00000683380.1:n.1581A>G | ||
| ENST00000683828.1:c.1626A>G | ||
| ENST00000683907.1:c.182A>G | ENSP00000507754.1:p.Glu61Gly | |
| ENST00000684172.1:c.293A>G | ENSP00000508391.1:n.293A>G | |
| ENST00000684259.1:n.3684A>G | ||
| ENST00000684538.1:n.1296A>G | ||
| ENST00000684549.1:n.1468A>G | ||
| ENST00000261534.9:c.1917A>G MANE Select | ENSP00000261534.4:p.Gly639= | |
| ENST00000261534.8:c.1917A>G | ENSP00000261534.4:p.Gly639= | |
| ENST00000452340.7:n.2893A>G | ||
| ENST00000554767.5:n.2703A>G | ||
| ENST00000555134.1:n.842A>G | ||
| ENST00000555710.1:c.278A>G | ENSP00000451730.1:n.278A>G | |
| ENST00000556171.1:c.509A>G | ||
| ENST00000556394.1:c.88-336A>G | ||
| ENST00000556446.1:n.218A>G | ||
| ENST00000602717.5:c.132A>G | ENSP00000487704.1:p.Gly44= | |
| NM_013382.5:c.1917A>G , LRG_844t1:c.1917A>G | NP_037514.2:p.Gly639= | |
| XM_011536675.1:c.2106A>G | XP_011534977.1:p.Gly702= | |
| XM_011536676.1:c.1773A>G | XP_011534978.1:p.Gly591= | |
| XM_011536677.1:c.1647A>G | XP_011534979.1:p.Gly549= | |
| XM_011536679.1:c.1200A>G | XP_011534981.1:p.Gly400= | |
| XR_943416.1:n.2170A>G | ||
| XM_011536675.2:c.2106A>G | XP_011534977.1:p.Gly702= | |
| XM_011536676.2:c.1773A>G | XP_011534978.1:p.Gly591= | |
| XM_011536677.3:c.1647A>G | XP_011534979.1:p.Gly549= | |
| XR_001750279.1:n.2203A>G | ||
| XR_001750282.1:n.2856A>G | ||
| XR_943416.3:n.2168A>G | ||
| NM_013382.6:c.1917A>G | NP_037514.2:p.Gly639= | |
| NM_013382.7:c.1917A>G MANE Select | NP_037514.2:p.Gly639= |