Linked Data
dbSNP Id:
rs978023222
gnomAD v2:
1-154437649-C-G
gnomAD v3:
1-154465173-C-G
gnomAD v4:
1-154465173-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465173C>G , CM000663.2:g.154465173C>G | GRCh38 |
| NC_000001.10:g.154437649C>G , CM000663.1:g.154437649C>G | GRCh37 |
| NC_000001.9:g.152704273C>G | NCBI36 |
| NG_012087.1:g.64981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1200C>G MANE Select | ENSP00000357470.3:p.Gly400= | |
| ENST00000344086.8:c.*8C>G | ENSP00000340589.4:n.*8C>G | |
| ENST00000368485.7:c.1200C>G | ENSP00000357470.3:p.Gly400= | |
| ENST00000502679.1:n.513C>G | ||
| ENST00000507256.1:n.398C>G | ||
| NM_000565.3:c.1200C>G | NP_000556.1:p.Gly400= | |
| NM_181359.2:c.*8C>G | NP_852004.1:n.*8C>G | |
| XM_005245139.1:c.964C>G | XP_005245196.1:p.Gln322Glu | |
| XM_005245140.1:c.*41C>G | XP_005245197.1:n.*41C>G | |
| XM_006711298.1:c.1248C>G | XP_006711361.1:p.Gly416= | |
| XM_006711299.2:c.*8C>G | XP_006711362.1:n.*8C>G | |
| XM_005245139.2:c.964C>G | XP_005245196.1:p.Gln322Glu | |
| XM_005245140.3:c.*41C>G | XP_005245197.1:n.*41C>G | |
| XM_006711298.2:c.1248C>G | XP_006711361.1:p.Gly416= | |
| XM_006711299.4:c.*8C>G | XP_006711362.1:n.*8C>G | |
| XM_017001199.2:c.1347C>G | XP_016856688.1:p.Gly449= | |
| XM_017001200.2:c.1299C>G | XP_016856689.1:p.Gly433= | |
| XM_017001201.2:c.*41C>G | XP_016856690.1:n.*41C>G | |
| NM_000565.4:c.1200C>G MANE Select | NP_000556.1:p.Gly400= | |
| NM_181359.3:c.*8C>G | NP_852004.1:n.*8C>G | |
| NM_001382769.1:c.1299C>G | NP_001369698.1:p.Gly433= | |
| NM_001382770.1:c.1293C>G | NP_001369699.1:p.Gly431= | |
| NM_001382771.1:c.1248C>G | NP_001369700.1:p.Gly416= | |
| NM_001382772.1:c.1194C>G | NP_001369701.1:p.Gly398= | |
| NM_001382773.1:c.*8C>G | NP_001369702.1:n.*8C>G | |
| NM_001382774.1:c.840C>G | NP_001369703.1:p.Gly280= |