Linked Data
ClinVar Variation Id:
2130260
ClinVar RCV Id:
RCV003044446
dbSNP Id:
rs1163955914
gnomAD v2:
4-6303085-G-A
gnomAD v4:
4-6301358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301358G>A , CM000666.2:g.6301358G>A | GRCh38 |
| NC_000004.11:g.6303085G>A , CM000666.1:g.6303085G>A | GRCh37 |
| NC_000004.10:g.6353986G>A | NCBI36 |
| NG_011700.1:g.36509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1599G>A | ENSP00000507852.1:p.Leu533= | |
| ENST00000683395.1:c.1540G>A | ||
| ENST00000684087.1:c.1563G>A | ENSP00000506978.1:p.Leu521= | |
| ENST00000506362.2:c.1314G>A | ENSP00000424103.2:p.Leu438= | |
| ENST00000673642.1:c.1222G>A | ENSP00000501242.1:p.Glu408Lys | |
| ENST00000673991.1:c.1599G>A | ENSP00000501033.1:p.Leu533= | |
| ENST00000226760.5:c.1563G>A MANE Select | ENSP00000226760.1:p.Leu521= | |
| ENST00000503569.5:c.1563G>A | ENSP00000423337.1:p.Leu521= | |
| ENST00000507765.1:n.1748G>A | ||
| NM_001145853.1:c.1563G>A | NP_001139325.1:p.Leu521= | |
| NM_006005.3:c.1563G>A MANE Select | NP_005996.2:p.Leu521= | |
| XM_017008586.1:c.1572G>A | XP_016864075.1:p.Leu524= |