Linked Data
dbSNP Id:
rs377712049
ExAC:
4:6303914 G / C
gnomAD v2:
4-6303914-G-C
gnomAD v4:
4-6302187-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302187G>C , CM000666.2:g.6302187G>C | GRCh38 |
| NC_000004.11:g.6303914G>C , CM000666.1:g.6303914G>C | GRCh37 |
| NC_000004.10:g.6354815G>C | NCBI36 |
| NG_011700.1:g.37338G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2428G>C | ENSP00000507852.1:p.Val810Leu | |
| ENST00000683395.1:c.2369G>C | ||
| ENST00000684087.1:c.2392G>C | ENSP00000506978.1:p.Val798Leu | |
| ENST00000506362.2:c.2143G>C | ENSP00000424103.2:p.Val715Leu | |
| ENST00000673991.1:c.2428G>C | ENSP00000501033.1:p.Val810Leu | |
| ENST00000226760.5:c.2392G>C MANE Select | ENSP00000226760.1:p.Val798Leu | |
| ENST00000503569.5:c.2392G>C | ENSP00000423337.1:p.Val798Leu | |
| ENST00000507765.1:n.2577G>C | ||
| NM_001145853.1:c.2392G>C | NP_001139325.1:p.Val798Leu | |
| NM_006005.3:c.2392G>C MANE Select | NP_005996.2:p.Val798Leu | |
| XM_017008586.1:c.2401G>C | XP_016864075.1:p.Val801Leu |