Linked Data
dbSNP Id:
rs760368867
ExAC:
1:154437656 A / G
gnomAD v2:
1-154437656-A-G
gnomAD v4:
1-154465180-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465180A>G , CM000663.2:g.154465180A>G | GRCh38 |
| NC_000001.10:g.154437656A>G , CM000663.1:g.154437656A>G | GRCh37 |
| NC_000001.9:g.152704280A>G | NCBI36 |
| NG_012087.1:g.64988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1207A>G MANE Select | ENSP00000357470.3:p.Ser403Gly | |
| ENST00000344086.8:c.*15A>G | ENSP00000340589.4:n.*15A>G | |
| ENST00000368485.7:c.1207A>G | ENSP00000357470.3:p.Ser403Gly | |
| ENST00000502679.1:n.520A>G | ||
| ENST00000507256.1:n.405A>G | ||
| NM_000565.3:c.1207A>G | NP_000556.1:p.Ser403Gly | |
| NM_181359.2:c.*15A>G | NP_852004.1:n.*15A>G | |
| XM_005245139.1:c.971A>G | XP_005245196.1:p.Lys324Arg | |
| XM_005245140.1:c.*48A>G | XP_005245197.1:n.*48A>G | |
| XM_006711298.1:c.1255A>G | XP_006711361.1:p.Ser419Gly | |
| XM_006711299.2:c.*15A>G | XP_006711362.1:n.*15A>G | |
| XM_005245139.2:c.971A>G | XP_005245196.1:p.Lys324Arg | |
| XM_005245140.3:c.*48A>G | XP_005245197.1:n.*48A>G | |
| XM_006711298.2:c.1255A>G | XP_006711361.1:p.Ser419Gly | |
| XM_006711299.4:c.*15A>G | XP_006711362.1:n.*15A>G | |
| XM_017001199.2:c.1354A>G | XP_016856688.1:p.Ser452Gly | |
| XM_017001200.2:c.1306A>G | XP_016856689.1:p.Ser436Gly | |
| XM_017001201.2:c.*48A>G | XP_016856690.1:n.*48A>G | |
| NM_000565.4:c.1207A>G MANE Select | NP_000556.1:p.Ser403Gly | |
| NM_181359.3:c.*15A>G | NP_852004.1:n.*15A>G | |
| NM_001382769.1:c.1306A>G | NP_001369698.1:p.Ser436Gly | |
| NM_001382770.1:c.1300A>G | NP_001369699.1:p.Ser434Gly | |
| NM_001382771.1:c.1255A>G | NP_001369700.1:p.Ser419Gly | |
| NM_001382772.1:c.1201A>G | NP_001369701.1:p.Ser401Gly | |
| NM_001382773.1:c.*15A>G | NP_001369702.1:n.*15A>G | |
| NM_001382774.1:c.847A>G | NP_001369703.1:p.Ser283Gly |