Linked Data
dbSNP Id:
rs766673152
ExAC:
1:9017222 C / A
gnomAD v2:
1-9017222-C-A
gnomAD v4:
1-8957163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957163C>A , CM000663.2:g.8957163C>A | GRCh38 |
| NC_000001.10:g.9017222C>A , CM000663.1:g.9017222C>A | GRCh37 |
| NC_000001.9:g.8939809C>A | NCBI36 |
| NG_033975.1:g.16330C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.286C>A MANE Select | ENSP00000366662.2:p.Arg96Ser | |
| ENST00000377436.6:c.286C>A | ENSP00000366654.3:p.Arg96Ser | |
| ENST00000377442.3:c.106C>A | ENSP00000366661.2:p.Arg36Ser | |
| ENST00000377443.6:c.286C>A | ENSP00000366662.2:p.Arg96Ser | |
| ENST00000476083.1:n.99-1747C>A | ||
| ENST00000549778.5:c.190C>A | ENSP00000447108.1:p.Arg64Ser | |
| NM_001215.3:c.286C>A | NP_001206.2:p.Arg96Ser | |
| NM_001270500.1:c.286C>A | NP_001257429.1:p.Arg96Ser | |
| NM_001270501.1:c.106C>A | NP_001257430.1:p.Arg36Ser | |
| NM_001270502.1:c.25-1747C>A | NP_001257431.1:n.25-1747C>A | |
| XM_011542083.1:c.298C>A | XP_011540385.1:p.Arg100Ser | |
| XM_011542084.1:c.298C>A | XP_011540386.1:p.Arg100Ser | |
| XM_011542083.3:c.298C>A | XP_011540385.1:p.Arg100Ser | |
| XM_011542084.3:c.298C>A | XP_011540386.1:p.Arg100Ser | |
| NM_001215.4:c.286C>A MANE Select | NP_001206.2:p.Arg96Ser | |
| NM_001270500.2:c.286C>A | NP_001257429.1:p.Arg96Ser | |
| NM_001270501.2:c.106C>A | NP_001257430.1:p.Arg36Ser | |
| NM_001270502.2:c.25-1747C>A | NP_001257431.1:n.25-1747C>A |