Linked Data
ClinVar Variation Id:
200438
dbSNP Id:
rs143335921
ExAC:
7:150647268 C / G
gnomAD v2:
7-150647268-C-G
gnomAD v3:
7-150950180-C-G
gnomAD v4:
7-150950180-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950180C>G , CM000669.2:g.150950180C>G | GRCh38 |
| NC_000007.13:g.150647268C>G , CM000669.1:g.150647268C>G | GRCh37 |
| NC_000007.12:g.150278201C>G | NCBI36 |
| NG_008916.1:g.32747G>C , LRG_288:g.32747G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1684G>C | ||
| ENST00000684241.1:n.3219G>C | ||
| ENST00000262186.10:c.2386G>C MANE Select | ENSP00000262186.5:p.Val796Leu | |
| ENST00000330883.9:c.1366G>C | ENSP00000328531.4:p.Val456Leu | |
| ENST00000262186.9:c.2386G>C | ENSP00000262186.5:p.Val796Leu | |
| ENST00000330883.8:c.1366G>C | ENSP00000328531.4:p.Val456Leu | |
| ENST00000430723.4:c.2038G>C | ENSP00000387657.4:p.Val680Leu | |
| ENST00000461280.1:n.1673G>C | ||
| ENST00000473610.5:n.2018G>C | ||
| ENST00000532957.5:n.2609G>C | ||
| NM_000238.3:c.2386G>C , LRG_288t1:c.2386G>C | NP_000229.1:p.Val796Leu | |
| NM_001204798.1:c.1366G>C | NP_001191727.1:p.Val456Leu | |
| NM_172056.2:c.2386G>C , LRG_288t2:c.2386G>C | NP_742053.1:p.Val796Leu | |
| NM_172057.2:c.1366G>C , LRG_288t3:c.1366G>C | NP_742054.1:p.Val456Leu | |
| XM_011516185.1:c.2086G>C | XP_011514487.1:p.Val696Leu | |
| XM_011516186.1:c.2386G>C | XP_011514488.1:p.Val796Leu | |
| XM_011516185.2:c.2086G>C | XP_011514487.1:p.Val696Leu | |
| XM_011516186.3:c.2386G>C | XP_011514488.1:p.Val796Leu | |
| XM_017012195.1:c.2236G>C | XP_016867684.1:p.Val746Leu | |
| XM_017012196.1:c.2209G>C | XP_016867685.1:p.Val737Leu | |
| NM_000238.4:c.2386G>C MANE Select | NP_000229.1:p.Val796Leu | |
| NM_001204798.2:c.1366G>C | NP_001191727.1:p.Val456Leu | |
| NM_172057.3:c.1366G>C | NP_742054.1:p.Val456Leu |