Linked Data
ClinVar Variation Id:
1492294
ClinVar RCV Id:
RCV002012379
dbSNP Id:
rs2140162404
gnomAD v4:
14-77278852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278852G>A , CM000676.2:g.77278852G>A | GRCh38 |
| NC_000014.8:g.77745195G>A , CM000676.1:g.77745195G>A | GRCh37 |
| NC_000014.7:g.76814948G>A | NCBI36 |
| NG_008897.1:g.47031C>T , LRG_844:g.47031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.834C>T | ||
| ENST00000556394.2:c.1450C>T | ENSP00000451967.2:p.Leu484Phe | |
| ENST00000682128.1:c.210C>T | ENSP00000506976.1:n.210C>T | |
| ENST00000682247.1:c.1898C>T | ENSP00000507213.1:p.Ala633Val | |
| ENST00000682395.1:n.2373C>T | ||
| ENST00000682459.1:n.1612C>T | ||
| ENST00000682467.1:c.1892-344C>T | ENSP00000508062.1:n.1892-344C>T | |
| ENST00000682615.1:n.263C>T | ||
| ENST00000682795.1:c.2056C>T | ENSP00000507574.1:p.Leu686Phe | |
| ENST00000682895.1:n.1625C>T | ||
| ENST00000682955.1:n.1483C>T | ||
| ENST00000683095.1:c.315C>T | ENSP00000508040.1:n.315C>T | |
| ENST00000683188.1:c.2170C>T | ||
| ENST00000683380.1:n.1573C>T | ||
| ENST00000683828.1:c.1618C>T | ||
| ENST00000683907.1:c.174C>T | ENSP00000507754.1:p.Cys58= | |
| ENST00000684172.1:c.285C>T | ENSP00000508391.1:n.285C>T | |
| ENST00000684259.1:n.3676C>T | ||
| ENST00000684538.1:n.1288C>T | ||
| ENST00000684549.1:n.1460C>T | ||
| ENST00000261534.9:c.1909C>T MANE Select | ENSP00000261534.4:p.Leu637Phe | |
| ENST00000261534.8:c.1909C>T | ENSP00000261534.4:p.Leu637Phe | |
| ENST00000452340.7:n.2885C>T | ||
| ENST00000554767.5:n.2695C>T | ||
| ENST00000555134.1:n.834C>T | ||
| ENST00000555710.1:c.270C>T | ENSP00000451730.1:n.270C>T | |
| ENST00000556171.1:c.501C>T | ||
| ENST00000556394.1:c.88-344C>T | ||
| ENST00000556446.1:n.210C>T | ||
| ENST00000602717.5:c.124C>T | ENSP00000487704.1:p.Leu42Phe | |
| NM_013382.5:c.1909C>T , LRG_844t1:c.1909C>T | NP_037514.2:p.Leu637= | |
| XM_011536675.1:c.2098C>T | XP_011534977.1:p.Leu700Phe | |
| XM_011536676.1:c.1765C>T | XP_011534978.1:p.Leu589Phe | |
| XM_011536677.1:c.1639C>T | XP_011534979.1:p.Leu547Phe | |
| XM_011536679.1:c.1192C>T | XP_011534981.1:p.Leu398Phe | |
| XR_943416.1:n.2162C>T | ||
| XM_011536675.2:c.2098C>T | XP_011534977.1:p.Leu700Phe | |
| XM_011536676.2:c.1765C>T | XP_011534978.1:p.Leu589Phe | |
| XM_011536677.3:c.1639C>T | XP_011534979.1:p.Leu547Phe | |
| XR_001750279.1:n.2195C>T | ||
| XR_001750282.1:n.2848C>T | ||
| XR_943416.3:n.2160C>T | ||
| NM_013382.6:c.1909C>T | NP_037514.2:p.Leu637Phe | |
| NM_013382.7:c.1909C>T MANE Select | NP_037514.2:p.Leu637Phe |