Linked Data
ClinVar Variation Id:
3056622
ClinVar RCV Id:
RCV003979250
MyVariant Identifiers:
chr14:g.77744846G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278503G>A , CM000676.2:g.77278503G>A | GRCh38 |
| NC_000014.8:g.77744846G>A , CM000676.1:g.77744846G>A | GRCh37 |
| NC_000014.7:g.76814599G>A | NCBI36 |
| NG_008897.1:g.47380C>T , LRG_844:g.47380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.963C>T | ||
| ENST00000556394.2:c.1579C>T | ENSP00000451967.2:p.Leu527= | |
| ENST00000682247.1:c.2027C>T | ENSP00000507213.1:p.Ser676Phe | |
| ENST00000682395.1:n.2502C>T | ||
| ENST00000682459.1:n.1741C>T | ||
| ENST00000682467.1:c.1897C>T | ENSP00000508062.1:p.Leu633= | |
| ENST00000682795.1:c.2185C>T | ENSP00000507574.1:p.Leu729= | |
| ENST00000682895.1:n.1754C>T | ||
| ENST00000682955.1:n.1612C>T | ||
| ENST00000683188.1:c.2299C>T | ||
| ENST00000683380.1:n.1702C>T | ||
| ENST00000683907.1:c.303C>T | ENSP00000507754.1:n.303C>T | |
| ENST00000684259.1:n.3805C>T | ||
| ENST00000684538.1:n.1417C>T | ||
| ENST00000684549.1:n.1589C>T | ||
| ENST00000261534.9:c.2038C>T MANE Select | ENSP00000261534.4:p.Leu680= | |
| ENST00000261534.8:c.2038C>T | ENSP00000261534.4:p.Leu680= | |
| ENST00000452340.7:n.3014C>T | ||
| ENST00000554767.5:n.2824C>T | ||
| ENST00000555710.1:c.399C>T | ENSP00000451730.1:n.399C>T | |
| ENST00000556394.1:c.93C>T | ||
| ENST00000556446.1:n.339C>T | ||
| ENST00000602717.5:c.253C>T | ENSP00000487704.1:p.Leu85= | |
| NM_013382.5:c.2038C>T , LRG_844t1:c.2038C>T | NP_037514.2:p.Leu680= | |
| XM_011536675.1:c.2227C>T | XP_011534977.1:p.Leu743= | |
| XM_011536676.1:c.1894C>T | XP_011534978.1:p.Leu632= | |
| XM_011536677.1:c.1768C>T | XP_011534979.1:p.Leu590= | |
| XM_011536679.1:c.1321C>T | XP_011534981.1:p.Leu441= | |
| XR_943416.1:n.2291C>T | ||
| XM_011536675.2:c.2227C>T | XP_011534977.1:p.Leu743= | |
| XM_011536676.2:c.1894C>T | XP_011534978.1:p.Leu632= | |
| XM_011536677.3:c.1768C>T | XP_011534979.1:p.Leu590= | |
| XR_001750279.1:n.2324C>T | ||
| XR_001750282.1:n.2977C>T | ||
| XR_943416.3:n.2289C>T | ||
| NM_013382.6:c.2038C>T | NP_037514.2:p.Leu680= | |
| NM_013382.7:c.2038C>T MANE Select | NP_037514.2:p.Leu680= |