Linked Data
dbSNP Id:
rs760747460
ExAC:
5:68830578 G / A
gnomAD v2:
5-68830578-G-A
gnomAD v4:
5-69534751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69534751G>A , CM000667.2:g.69534751G>A | GRCh38 |
| NC_000005.9:g.68830578G>A , CM000667.1:g.68830578G>A | GRCh37 |
| NC_000005.8:g.68866334G>A | NCBI36 |
| NG_028291.1:g.47460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396442.7:c.949G>A MANE Select | ENSP00000379719.2:p.Glu317Lys | |
| ENST00000680027.1:c.949G>A | ENSP00000506162.1:p.Glu317Lys | |
| ENST00000680496.1:c.787G>A | ENSP00000504966.1:p.Glu263Lys | |
| ENST00000680784.1:c.787G>A | ENSP00000506305.1:p.Glu263Lys | |
| ENST00000681041.1:c.949G>A | ENSP00000505426.1:p.Glu317Lys | |
| ENST00000681586.1:c.949G>A | ENSP00000505541.1:p.Glu317Lys | |
| ENST00000681588.1:c.*125G>A | ENSP00000506017.1:n.*125G>A | |
| ENST00000681895.1:c.949G>A | ENSP00000505831.1:p.Glu317Lys | |
| ENST00000355237.6:c.949G>A | ENSP00000347379.2:p.Glu317Lys | |
| ENST00000396442.6:c.949G>A | ENSP00000379719.2:p.Glu317Lys | |
| ENST00000538151.2:c.196G>A | ENSP00000445940.1:p.Glu66Lys | |
| NM_001205254.1:c.949G>A | NP_001192183.1:p.Glu317Lys | |
| NM_001205255.1:c.196G>A | NP_001192184.1:p.Glu66Lys | |
| NM_002538.3:c.949G>A | NP_002529.1:p.Glu317Lys | |
| XM_017008913.2:c.787G>A | XP_016864402.1:p.Glu263Lys | |
| XM_017008914.2:c.787G>A | XP_016864403.1:p.Glu263Lys | |
| NM_001205254.2:c.949G>A MANE Select | NP_001192183.1:p.Glu317Lys | |
| NM_002538.4:c.949G>A | NP_002529.1:p.Glu317Lys |