Linked Data
ClinVar Variation Id:
1310658
ClinVar RCV Id:
RCV001767772
dbSNP Id:
rs1361876642
gnomAD v3:
14-77278466-A-G
gnomAD v4:
14-77278466-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278466A>G , CM000676.2:g.77278466A>G | GRCh38 |
| NC_000014.8:g.77744809A>G , CM000676.1:g.77744809A>G | GRCh37 |
| NC_000014.7:g.76814562A>G | NCBI36 |
| NG_008897.1:g.47417T>C , LRG_844:g.47417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1000T>C | ||
| ENST00000556394.2:c.1616T>C | ENSP00000451967.2:p.Leu539Ser | |
| ENST00000682247.1:c.2064T>C | ENSP00000507213.1:p.Leu688= | |
| ENST00000682395.1:n.2539T>C | ||
| ENST00000682459.1:n.1778T>C | ||
| ENST00000682467.1:c.1934T>C | ENSP00000508062.1:p.Leu645Ser | |
| ENST00000682795.1:c.2222T>C | ENSP00000507574.1:p.Leu741Ser | |
| ENST00000682895.1:n.1791T>C | ||
| ENST00000682955.1:n.1649T>C | ||
| ENST00000683188.1:c.2336T>C | ||
| ENST00000683380.1:n.1739T>C | ||
| ENST00000683907.1:c.340T>C | ENSP00000507754.1:n.340T>C | |
| ENST00000684259.1:n.3842T>C | ||
| ENST00000684538.1:n.1454T>C | ||
| ENST00000684549.1:n.1626T>C | ||
| ENST00000261534.9:c.2075T>C MANE Select | ENSP00000261534.4:p.Leu692Ser | |
| ENST00000261534.8:c.2075T>C | ENSP00000261534.4:p.Leu692Ser | |
| ENST00000452340.7:n.3051T>C | ||
| ENST00000554767.5:n.2861T>C | ||
| ENST00000555710.1:c.436T>C | ENSP00000451730.1:n.436T>C | |
| ENST00000556394.1:c.130T>C | ||
| ENST00000556446.1:n.376T>C | ||
| ENST00000602717.5:c.290T>C | ENSP00000487704.1:p.Leu97Ser | |
| NM_013382.5:c.2075T>C , LRG_844t1:c.2075T>C | NP_037514.2:p.Leu692Ser | |
| XM_011536675.1:c.2264T>C | XP_011534977.1:p.Leu755Ser | |
| XM_011536676.1:c.1931T>C | XP_011534978.1:p.Leu644Ser | |
| XM_011536677.1:c.1805T>C | XP_011534979.1:p.Leu602Ser | |
| XM_011536679.1:c.1358T>C | XP_011534981.1:p.Leu453Ser | |
| XR_943416.1:n.2328T>C | ||
| XM_011536675.2:c.2264T>C | XP_011534977.1:p.Leu755Ser | |
| XM_011536676.2:c.1931T>C | XP_011534978.1:p.Leu644Ser | |
| XM_011536677.3:c.1805T>C | XP_011534979.1:p.Leu602Ser | |
| XR_001750279.1:n.2361T>C | ||
| XR_001750282.1:n.3014T>C | ||
| XR_943416.3:n.2326T>C | ||
| NM_013382.6:c.2075T>C | NP_037514.2:p.Leu692Ser | |
| NM_013382.7:c.2075T>C MANE Select | NP_037514.2:p.Leu692Ser |