Linked Data
dbSNP Id:
rs200966772
ExAC:
16:27374077 G / A
gnomAD v2:
16-27374077-G-A
gnomAD v3:
16-27362756-G-A
gnomAD v4:
16-27362756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362756G>A , CM000678.2:g.27362756G>A | GRCh38 |
| NC_000016.9:g.27374077G>A , CM000678.1:g.27374077G>A | GRCh37 |
| NC_000016.8:g.27281578G>A | NCBI36 |
| NG_012086.1:g.53827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1404G>A MANE Select | ENSP00000379111.2:p.Glu468= | |
| ENST00000170630.6:c.1359G>A | ENSP00000170630.3:p.Glu453= | |
| ENST00000395762.6:c.1404G>A | ENSP00000379111.2:p.Glu468= | |
| ENST00000543915.6:c.1404G>A | ENSP00000441667.2:p.Glu468= | |
| ENST00000565352.1:c.230-1347G>A | ENSP00000461268.1:n.230-1347G>A | |
| ENST00000568746.5:c.*1447G>A | ENSP00000455714.1:n.*1447G>A | |
| NM_000418.3:c.1404G>A | NP_000409.1:p.Glu468= | |
| NM_001257406.1:c.1404G>A | NP_001244335.1:p.Glu468= | |
| NM_001257407.1:c.1359G>A | NP_001244336.1:p.Glu453= | |
| NM_001257997.1:c.924G>A | NP_001244926.1:p.Glu308= | |
| XM_005255308.2:c.513G>A | XP_005255365.1:p.Glu171= | |
| XM_006721043.1:c.453G>A | XP_006721106.1:p.Glu151= | |
| XM_011545825.1:c.1404G>A | XP_011544127.1:p.Glu468= | |
| XM_011545826.1:c.1404G>A | XP_011544128.1:p.Glu468= | |
| XM_011545827.1:c.1404G>A | XP_011544129.1:p.Glu468= | |
| XM_011545828.1:c.1137G>A | XP_011544130.1:p.Glu379= | |
| XM_011545829.1:c.1107G>A | XP_011544131.1:p.Glu369= | |
| XM_011545830.1:c.1107G>A | XP_011544132.1:p.Glu369= | |
| XM_011545831.1:c.1107G>A | XP_011544133.1:p.Glu369= | |
| XM_011545832.1:c.1107G>A | XP_011544134.1:p.Glu369= | |
| XM_011545833.1:c.1107G>A | XP_011544135.1:p.Glu369= | |
| XM_011545834.1:c.981G>A | XP_011544136.1:p.Glu327= | |
| XM_011545826.2:c.1404G>A | XP_011544128.1:p.Glu468= | |
| XM_011545827.2:c.1404G>A | XP_011544129.1:p.Glu468= | |
| XM_011545828.2:c.1137G>A | XP_011544130.1:p.Glu379= | |
| XM_011545830.2:c.1107G>A | XP_011544132.1:p.Glu369= | |
| XM_011545833.2:c.1107G>A | XP_011544135.1:p.Glu369= | |
| XM_011545834.2:c.981G>A | XP_011544136.1:p.Glu327= | |
| XM_017023211.1:c.*439G>A | XP_016878700.1:n.*439G>A | |
| NM_000418.4:c.1404G>A MANE Select | NP_000409.1:p.Glu468= | |
| NM_001257406.2:c.1404G>A | NP_001244335.1:p.Glu468= | |
| NM_001257407.2:c.1359G>A | NP_001244336.1:p.Glu453= | |
| NM_001257997.2:c.924G>A | NP_001244926.1:p.Glu308= |