Linked Data
ClinVar Variation Id:
1346082
ClinVar RCV Id:
RCV002029831
dbSNP Id:
rs774415786
ExAC:
7:117254717 A / G
gnomAD v2:
7-117254717-A-G
gnomAD v3:
7-117614663-A-G
gnomAD v4:
7-117614663-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614663A>G , CM000669.2:g.117614663A>G | GRCh38 |
| NC_000007.13:g.117254717A>G , CM000669.1:g.117254717A>G | GRCh37 |
| NC_000007.12:g.117041953A>G | NCBI36 |
| NG_016465.4:g.153880A>G , LRG_663:g.153880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3418A>G | ENSP00000497673.2:p.Met1140Val | |
| ENST00000647978.2:c.*3132A>G | ENSP00000497658.1:n.*3132A>G | |
| ENST00000649781.2:c.3235A>G | ENSP00000497203.1:p.Met1079Val | |
| ENST00000685018.2:c.3418A>G | ENSP00000510194.2:p.Met1140Val | |
| ENST00000687278.2:c.3418A>G | ENSP00000509593.2:p.Met1140Val | |
| ENST00000699585.1:c.3418A>G | ENSP00000514456.1:p.Met1140Val | |
| ENST00000699598.1:c.3418A>G | ENSP00000514467.1:p.Met1140Val | |
| ENST00000699599.1:c.3418A>G | ENSP00000514468.1:p.Met1140Val | |
| ENST00000699600.1:c.3418A>G | ENSP00000514469.1:p.Met1140Val | |
| ENST00000699601.1:c.*1793A>G | ENSP00000514470.1:n.*1793A>G | |
| ENST00000699602.1:c.3412A>G | ENSP00000514471.1:p.Met1138Val | |
| ENST00000699604.1:c.*3242A>G | ENSP00000514472.1:n.*3242A>G | |
| ENST00000699605.1:c.2992A>G | ENSP00000514473.1:p.Met998Val | |
| ENST00000685018.1:c.166A>G | ENSP00000510194.1:p.Met56Val | |
| ENST00000687278.1:c.1009A>G | ENSP00000509593.1:p.Met337Val | |
| ENST00000003084.11:c.3418A>G MANE Select | ENSP00000003084.6:p.Met1140Val | |
| ENST00000647720.1:c.1068A>G | ||
| ENST00000648260.1:c.2200A>G | ENSP00000497957.1:p.Met734Val | |
| ENST00000649406.1:c.3235A>G | ENSP00000497965.1:p.Met1079Val | |
| ENST00000649781.1:c.3235A>G | ENSP00000497203.1:p.Met1079Val | |
| ENST00000003084.10:c.3418A>G | ENSP00000003084.6:p.Met1140Val | |
| ENST00000426809.5:c.3328A>G | ENSP00000389119.1:p.Met1110Val | |
| ENST00000468795.1:c.243A>G | ||
| NM_000492.3:c.3418A>G , LRG_663t1:c.3418A>G | NP_000483.3:p.Met1140Val | |
| XM_011515751.1:c.3508A>G | XP_011514053.1:p.Met1170Val | |
| XM_011515752.1:c.3508A>G | XP_011514054.1:p.Met1170Val | |
| XM_011515753.1:c.3175A>G | XP_011514055.1:p.Met1059Val | |
| XM_011515754.1:c.3175A>G | XP_011514056.1:p.Met1059Val | |
| NM_000492.4:c.3418A>G MANE Select | NP_000483.3:p.Met1140Val |