Linked Data
ClinVar Variation Id:
516884
dbSNP Id:
rs899858451
gnomAD v2:
12-64890760-A-G
gnomAD v3:
12-64496980-A-G
gnomAD v4:
12-64496980-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64496980A>G , CM000674.2:g.64496980A>G | GRCh38 |
| NC_000012.11:g.64890760A>G , CM000674.1:g.64890760A>G | GRCh37 |
| NC_000012.10:g.63177027A>G | NCBI36 |
| NG_046906.1:g.49921A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331710.10:c.1792A>G MANE Select | ENSP00000329967.5:p.Met598Val | |
| ENST00000545392.2:n.698A>G | ||
| ENST00000650708.1:c.1833A>G | ||
| ENST00000650762.1:c.1534A>G | ENSP00000498758.1:p.Met512Val | |
| ENST00000650786.1:c.*1937A>G | ENSP00000498280.1:n.*1937A>G | |
| ENST00000650790.1:c.1792A>G | ENSP00000498995.1:p.Met598Val | |
| ENST00000650997.1:c.1792A>G | ENSP00000498341.1:p.Met598Val | |
| ENST00000651014.1:c.1636A>G | ENSP00000498885.1:p.Met546Val | |
| ENST00000651262.1:c.*59A>G | ENSP00000498461.1:n.*59A>G | |
| ENST00000651878.1:c.*1276A>G | ENSP00000499077.1:n.*1276A>G | |
| ENST00000652537.1:c.*172A>G | ENSP00000499102.1:n.*172A>G | |
| ENST00000652657.1:c.1792A>G | ENSP00000498887.1:p.Met598Val | |
| ENST00000676521.1:c.266A>G | ENSP00000503000.1:n.266A>G | |
| ENST00000676587.1:c.80-4350A>G | ||
| ENST00000676654.1:n.1921A>G | ||
| ENST00000676684.1:n.2512A>G | ||
| ENST00000676809.1:c.*481A>G | ENSP00000504298.1:n.*481A>G | |
| ENST00000676912.1:c.1636A>G | ENSP00000503567.1:p.Met546Val | |
| ENST00000676930.1:c.1444A>G | ENSP00000502899.1:p.Met482Val | |
| ENST00000677499.1:c.*172A>G | ENSP00000502875.1:n.*172A>G | |
| ENST00000677632.1:c.1777A>G | ENSP00000504586.1:p.Met593Val | |
| ENST00000677641.1:c.1789A>G | ENSP00000504637.1:p.Met597Val | |
| ENST00000677686.1:n.4861A>G | ||
| ENST00000677831.1:c.*172A>G | ENSP00000503760.1:n.*172A>G | |
| ENST00000678180.1:c.1690A>G | ENSP00000504132.1:p.Met564Val | |
| ENST00000678197.1:n.1775A>G | ||
| ENST00000678567.1:c.342A>G | ||
| ENST00000331710.9:c.1792A>G | ENSP00000329967.5:p.Met598Val | |
| NM_013254.3:c.1792A>G | NP_037386.1:p.Met598Val | |
| XM_005268809.1:c.1792A>G | XP_005268866.1:p.Met598Val | |
| XM_005268810.1:c.1792A>G | XP_005268867.1:p.Met598Val | |
| XR_944524.1:n.2059A>G | ||
| XR_001748674.2:n.2014A>G | ||
| NM_013254.4:c.1792A>G MANE Select | NP_037386.1:p.Met598Val |