Linked Data
ClinVar Variation Id:
940061
dbSNP Id:
rs143335921
ExAC:
7:150647268 C / A
gnomAD v2:
7-150647268-C-A
gnomAD v4:
7-150950180-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950180C>A , CM000669.2:g.150950180C>A | GRCh38 |
| NC_000007.13:g.150647268C>A , CM000669.1:g.150647268C>A | GRCh37 |
| NC_000007.12:g.150278201C>A | NCBI36 |
| NG_008916.1:g.32747G>T , LRG_288:g.32747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1684G>T | ||
| ENST00000684241.1:n.3219G>T | ||
| ENST00000262186.10:c.2386G>T MANE Select | ENSP00000262186.5:p.Val796Leu | |
| ENST00000330883.9:c.1366G>T | ENSP00000328531.4:p.Val456Leu | |
| ENST00000262186.9:c.2386G>T | ENSP00000262186.5:p.Val796Leu | |
| ENST00000330883.8:c.1366G>T | ENSP00000328531.4:p.Val456Leu | |
| ENST00000430723.4:c.2038G>T | ENSP00000387657.4:p.Val680Leu | |
| ENST00000461280.1:n.1673G>T | ||
| ENST00000473610.5:n.2018G>T | ||
| ENST00000532957.5:n.2609G>T | ||
| NM_000238.3:c.2386G>T , LRG_288t1:c.2386G>T | NP_000229.1:p.Val796Leu | |
| NM_001204798.1:c.1366G>T | NP_001191727.1:p.Val456Leu | |
| NM_172056.2:c.2386G>T , LRG_288t2:c.2386G>T | NP_742053.1:p.Val796Leu | |
| NM_172057.2:c.1366G>T , LRG_288t3:c.1366G>T | NP_742054.1:p.Val456Leu | |
| XM_011516185.1:c.2086G>T | XP_011514487.1:p.Val696Leu | |
| XM_011516186.1:c.2386G>T | XP_011514488.1:p.Val796Leu | |
| XM_011516185.2:c.2086G>T | XP_011514487.1:p.Val696Leu | |
| XM_011516186.3:c.2386G>T | XP_011514488.1:p.Val796Leu | |
| XM_017012195.1:c.2236G>T | XP_016867684.1:p.Val746Leu | |
| XM_017012196.1:c.2209G>T | XP_016867685.1:p.Val737Leu | |
| NM_000238.4:c.2386G>T MANE Select | NP_000229.1:p.Val796Leu | |
| NM_001204798.2:c.1366G>T | NP_001191727.1:p.Val456Leu | |
| NM_172057.3:c.1366G>T | NP_742054.1:p.Val456Leu |