Linked Data
ClinVar Variation Id:
67445
dbSNP Id:
rs199473012
ExAC:
7:150644796 G / C
gnomAD v2:
7-150644796-G-C
gnomAD v3:
7-150947708-G-C
gnomAD v4:
7-150947708-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947708G>C , CM000669.2:g.150947708G>C | GRCh38 |
| NC_000007.13:g.150644796G>C , CM000669.1:g.150644796G>C | GRCh37 |
| NC_000007.12:g.150275729G>C | NCBI36 |
| NG_008916.1:g.35219C>G , LRG_288:g.35219C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3696C>G | ||
| ENST00000262186.10:c.2863C>G MANE Select | ENSP00000262186.5:p.Leu955Val | |
| ENST00000330883.9:c.1843C>G | ENSP00000328531.4:p.Leu615Val | |
| ENST00000262186.9:c.2863C>G | ENSP00000262186.5:p.Leu955Val | |
| ENST00000330883.8:c.1843C>G | ENSP00000328531.4:p.Leu615Val | |
| NM_000238.3:c.2863C>G , LRG_288t1:c.2863C>G | NP_000229.1:p.Leu955Val | |
| NM_172057.2:c.1843C>G , LRG_288t3:c.1843C>G | NP_742054.1:p.Leu615Val | |
| XM_011516185.1:c.2563C>G | XP_011514487.1:p.Leu855Val | |
| XM_011516186.1:c.2693-17C>G | XP_011514488.1:n.2693-17C>G | |
| XM_011516185.2:c.2563C>G | XP_011514487.1:p.Leu855Val | |
| XM_011516186.3:c.2693-17C>G | XP_011514488.1:n.2693-17C>G | |
| XM_017012195.1:c.2713C>G | XP_016867684.1:p.Leu905Val | |
| XM_017012196.1:c.2686C>G | XP_016867685.1:p.Leu896Val | |
| NM_000238.4:c.2863C>G MANE Select | NP_000229.1:p.Leu955Val | |
| NM_172057.3:c.1843C>G | NP_742054.1:p.Leu615Val |