Linked Data
ClinVar Variation Id:
2241868
ClinVar RCV Id:
RCV002747703
dbSNP Id:
rs1890090364
gnomAD v3:
14-77278855-G-C
gnomAD v4:
14-77278855-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278855G>C , CM000676.2:g.77278855G>C | GRCh38 |
| NC_000014.8:g.77745198G>C , CM000676.1:g.77745198G>C | GRCh37 |
| NC_000014.7:g.76814951G>C | NCBI36 |
| NG_008897.1:g.47028C>G , LRG_844:g.47028C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.831C>G | ||
| ENST00000556394.2:c.1447C>G | ENSP00000451967.2:p.Leu483Val | |
| ENST00000682128.1:c.207C>G | ENSP00000506976.1:n.207C>G | |
| ENST00000682247.1:c.1895C>G | ENSP00000507213.1:p.Pro632Arg | |
| ENST00000682395.1:n.2370C>G | ||
| ENST00000682459.1:n.1609C>G | ||
| ENST00000682467.1:c.1892-347C>G | ENSP00000508062.1:n.1892-347C>G | |
| ENST00000682615.1:n.260C>G | ||
| ENST00000682795.1:c.2053C>G | ENSP00000507574.1:p.Leu685Val | |
| ENST00000682895.1:n.1622C>G | ||
| ENST00000682955.1:n.1480C>G | ||
| ENST00000683095.1:c.312C>G | ENSP00000508040.1:n.312C>G | |
| ENST00000683188.1:c.2167C>G | ||
| ENST00000683380.1:n.1570C>G | ||
| ENST00000683828.1:c.1615C>G | ||
| ENST00000683907.1:c.171C>G | ENSP00000507754.1:p.Ser57= | |
| ENST00000684172.1:c.282C>G | ENSP00000508391.1:n.282C>G | |
| ENST00000684259.1:n.3673C>G | ||
| ENST00000684538.1:n.1285C>G | ||
| ENST00000684549.1:n.1457C>G | ||
| ENST00000261534.9:c.1906C>G MANE Select | ENSP00000261534.4:p.Leu636Val | |
| ENST00000261534.8:c.1906C>G | ENSP00000261534.4:p.Leu636Val | |
| ENST00000452340.7:n.2882C>G | ||
| ENST00000554767.5:n.2692C>G | ||
| ENST00000555134.1:n.831C>G | ||
| ENST00000555710.1:c.267C>G | ENSP00000451730.1:n.267C>G | |
| ENST00000556171.1:c.498C>G | ||
| ENST00000556394.1:c.88-347C>G | ||
| ENST00000556446.1:n.207C>G | ||
| ENST00000602717.5:c.121C>G | ENSP00000487704.1:p.Leu41Val | |
| NM_013382.5:c.1906C>G , LRG_844t1:c.1906C>G | NP_037514.2:p.Leu636Val | |
| XM_011536675.1:c.2095C>G | XP_011534977.1:p.Leu699Val | |
| XM_011536676.1:c.1762C>G | XP_011534978.1:p.Leu588Val | |
| XM_011536677.1:c.1636C>G | XP_011534979.1:p.Leu546Val | |
| XM_011536679.1:c.1189C>G | XP_011534981.1:p.Leu397Val | |
| XR_943416.1:n.2159C>G | ||
| XM_011536675.2:c.2095C>G | XP_011534977.1:p.Leu699Val | |
| XM_011536676.2:c.1762C>G | XP_011534978.1:p.Leu588Val | |
| XM_011536677.3:c.1636C>G | XP_011534979.1:p.Leu546Val | |
| XR_001750279.1:n.2192C>G | ||
| XR_001750282.1:n.2845C>G | ||
| XR_943416.3:n.2157C>G | ||
| NM_013382.6:c.1906C>G | NP_037514.2:p.Leu636Val | |
| NM_013382.7:c.1906C>G MANE Select | NP_037514.2:p.Leu636Val |