Linked Data
ClinVar Variation Id:
1370377
dbSNP Id:
rs749886570
ExAC:
4:6302765 G / C
gnomAD v2:
4-6302765-G-C
gnomAD v3:
4-6301038-G-C
gnomAD v4:
4-6301038-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301038G>C , CM000666.2:g.6301038G>C | GRCh38 |
| NC_000004.11:g.6302765G>C , CM000666.1:g.6302765G>C | GRCh37 |
| NC_000004.10:g.6353666G>C | NCBI36 |
| NG_011700.1:g.36189G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1279G>C | ENSP00000507852.1:p.Val427Leu | |
| ENST00000683395.1:c.1220G>C | ||
| ENST00000684087.1:c.1243G>C | ENSP00000506978.1:p.Val415Leu | |
| ENST00000506362.2:c.994G>C | ENSP00000424103.2:p.Val332Leu | |
| ENST00000673642.1:c.902G>C | ENSP00000501242.1:p.Arg301Pro | |
| ENST00000673991.1:c.1279G>C | ENSP00000501033.1:p.Val427Leu | |
| ENST00000226760.5:c.1243G>C MANE Select | ENSP00000226760.1:p.Val415Leu | |
| ENST00000503569.5:c.1243G>C | ENSP00000423337.1:p.Val415Leu | |
| ENST00000507765.1:n.1428G>C | ||
| NM_001145853.1:c.1243G>C | NP_001139325.1:p.Val415Leu | |
| NM_006005.3:c.1243G>C MANE Select | NP_005996.2:p.Val415Leu | |
| XM_017008586.1:c.1252G>C | XP_016864075.1:p.Val418Leu |