Linked Data
ClinVar Variation Id:
2103161
ClinVar RCV Id:
RCV003022000
dbSNP Id:
rs758091097
ExAC:
4:6302431 G / A
gnomAD v2:
4-6302431-G-A
gnomAD v4:
4-6300704-G-A
COSMIC:
COSM3674204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300704G>A , CM000666.2:g.6300704G>A | GRCh38 |
| NC_000004.11:g.6302431G>A , CM000666.1:g.6302431G>A | GRCh37 |
| NC_000004.10:g.6353332G>A | NCBI36 |
| NG_011700.1:g.35855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.945G>A | ENSP00000507852.1:p.Leu315= | |
| ENST00000683395.1:c.886G>A | ||
| ENST00000684087.1:c.909G>A | ENSP00000506978.1:p.Leu303= | |
| ENST00000506362.2:c.660G>A | ENSP00000424103.2:p.Leu220= | |
| ENST00000673642.1:c.661-93G>A | ENSP00000501242.1:n.661-93G>A | |
| ENST00000673991.1:c.945G>A | ENSP00000501033.1:p.Leu315= | |
| ENST00000226760.5:c.909G>A MANE Select | ENSP00000226760.1:p.Leu303= | |
| ENST00000503569.5:c.909G>A | ENSP00000423337.1:p.Leu303= | |
| ENST00000506362.1:c.542G>A | ||
| ENST00000507765.1:n.1094G>A | ||
| ENST00000513395.1:n.467G>A | ||
| NM_001145853.1:c.909G>A | NP_001139325.1:p.Leu303= | |
| NM_006005.3:c.909G>A MANE Select | NP_005996.2:p.Leu303= | |
| XM_017008586.1:c.918G>A | XP_016864075.1:p.Leu306= |