Linked Data
dbSNP Id:
rs201870045
ExAC:
17:61574244 A / G
gnomAD v2:
17-61574244-A-G
gnomAD v3:
17-63496883-A-G
gnomAD v4:
17-63496883-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496883A>G , CM000679.2:g.63496883A>G | GRCh38 |
| NC_000017.10:g.61574244A>G , CM000679.1:g.61574244A>G | GRCh37 |
| NC_000017.9:g.58927976A>G | NCBI36 |
| NG_011648.1:g.24811A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.3589A>G MANE Select | ENSP00000290866.4:p.Met1197Val | |
| ENST00000290863.10:c.1867A>G | ENSP00000290863.6:p.Met623Val | |
| ENST00000290866.9:c.3589A>G | ENSP00000290866.4:p.Met1197Val | |
| ENST00000413513.7:c.1744A>G | ENSP00000392247.3:p.Met582Val | |
| ENST00000428043.5:c.3589A>G | ENSP00000397593.2:p.Met1197Val | |
| ENST00000577418.5:n.599A>G | ||
| ENST00000577647.2:c.1867A>G | ENSP00000464149.1:p.Met623Val | |
| ENST00000578839.5:c.*1344A>G | ENSP00000462110.2:n.*1344A>G | |
| ENST00000579314.5:c.*1318A>G | ENSP00000462599.1:n.*1318A>G | |
| ENST00000579409.1:c.276A>G | ||
| ENST00000582244.1:n.463A>G | ||
| NM_000789.3:c.3589A>G | NP_000780.1:p.Met1197Val | |
| NM_001178057.1:c.1744A>G | NP_001171528.1:p.Met582Val | |
| NM_152830.2:c.1867A>G | NP_690043.1:p.Met623Val | |
| XM_005257110.1:c.3040A>G | XP_005257167.1:p.Met1014Val | |
| XM_006721737.2:c.1927A>G | XP_006721800.2:p.Met643Val | |
| XM_006721737.3:c.1927A>G | XP_006721800.2:p.Met643Val | |
| NM_000789.4:c.3589A>G MANE Select | NP_000780.1:p.Met1197Val | |
| NM_001178057.2:c.1744A>G | NP_001171528.1:p.Met582Val | |
| NM_152830.3:c.1867A>G | NP_690043.1:p.Met623Val | |
| NM_001382700.1:c.3022A>G | NP_001369629.1:p.Met1008Val | |
| NM_001382701.1:c.2737A>G | NP_001369630.1:p.Met913Val | |
| NM_001382702.1:c.1204A>G | NP_001369631.1:p.Met402Val | |
| NR_168483.1:n.1967A>G |