Linked Data
ClinVar Variation Id:
67490
dbSNP Id:
rs199473546
gnomAD v3:
7-150945502-T-C
gnomAD v4:
7-150945502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150945502T>C , CM000669.2:g.150945502T>C | GRCh38 |
| NC_000007.13:g.150642590T>C , CM000669.1:g.150642590T>C | GRCh37 |
| NC_000007.12:g.150273523T>C | NCBI36 |
| NG_008916.1:g.37425A>G , LRG_288:g.37425A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.4176A>G | ||
| ENST00000262186.10:c.3343A>G MANE Select | ENSP00000262186.5:p.Met1115Val | |
| ENST00000330883.9:c.2323A>G | ENSP00000328531.4:p.Met775Val | |
| ENST00000262186.9:c.3343A>G | ENSP00000262186.5:p.Met1115Val | |
| ENST00000330883.8:c.2323A>G | ENSP00000328531.4:p.Met775Val | |
| NM_000238.3:c.3343A>G , LRG_288t1:c.3343A>G | NP_000229.1:p.Met1115Val | |
| NM_172057.2:c.2323A>G , LRG_288t3:c.2323A>G | NP_742054.1:p.Met775Val | |
| XM_011516185.1:c.3043A>G | XP_011514487.1:p.Met1015Val | |
| XM_011516185.2:c.3043A>G | XP_011514487.1:p.Met1015Val | |
| XM_017012195.1:c.3193A>G | XP_016867684.1:p.Met1065Val | |
| XM_017012196.1:c.3166A>G | XP_016867685.1:p.Met1056Val | |
| NM_000238.4:c.3343A>G MANE Select | NP_000229.1:p.Met1115Val | |
| NM_172057.3:c.2323A>G | NP_742054.1:p.Met775Val |