Linked Data
ClinVar Variation Id:
373416
dbSNP Id:
rs137852951
gnomAD v2:
4-166916242-A-G
gnomAD v3:
4-165995090-A-G
gnomAD v4:
4-165995090-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165995090A>G , CM000666.2:g.165995090A>G | GRCh38 |
| NC_000004.11:g.166916242A>G , CM000666.1:g.166916242A>G | GRCh37 |
| NC_000004.10:g.167135692A>G | NCBI36 |
| NG_016278.1:g.126833A>G | |
| NG_016278.2:g.126833A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000061240.7:c.544A>G MANE Select | ENSP00000061240.2:p.Met182Val | |
| ENST00000061240.6:c.544A>G | ENSP00000061240.2:p.Met182Val | |
| ENST00000506144.1:c.244A>G | ENSP00000423748.1:p.Met82Val | |
| ENST00000507499.5:c.544A>G | ENSP00000426082.1:p.Met182Val | |
| ENST00000509505.5:c.*189A>G | ENSP00000422692.1:n.*189A>G | |
| ENST00000513213.5:c.544A>G | ENSP00000422937.1:p.Met182Val | |
| NM_001204760.1:c.544A>G | NP_001191689.1:p.Met182Val | |
| NM_012464.4:c.544A>G | NP_036596.3:p.Met182Val | |
| XM_011532212.1:c.544A>G | XP_011530514.1:p.Met182Val | |
| XM_011532213.1:c.397A>G | XP_011530515.1:p.Met133Val | |
| XM_011532214.1:c.16A>G | XP_011530516.1:p.Met6Val | |
| XM_017008570.1:c.397A>G | XP_016864059.1:p.Met133Val | |
| XM_024454194.1:c.244A>G | XP_024309962.1:p.Met82Val | |
| XM_024454195.1:c.244A>G | XP_024309963.1:p.Met82Val | |
| NM_012464.5:c.544A>G MANE Select | NP_036596.3:p.Met182Val | |
| NM_001204760.2:c.544A>G | NP_001191689.1:p.Met182Val |