Linked Data
dbSNP Id:
rs2274333
ExAC:
1:9017204 A / G
gnomAD v2:
1-9017204-A-G
gnomAD v3:
1-8957145-A-G
gnomAD v4:
1-8957145-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957145A>G , CM000663.2:g.8957145A>G | GRCh38 |
| NC_000001.10:g.9017204A>G , CM000663.1:g.9017204A>G | GRCh37 |
| NC_000001.9:g.8939791A>G | NCBI36 |
| NG_033975.1:g.16312A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377443.7:c.268A>G MANE Select | ENSP00000366662.2:p.Ser90Gly | |
| ENST00000377436.6:c.268A>G | ENSP00000366654.3:p.Ser90Gly | |
| ENST00000377442.3:c.88A>G | ENSP00000366661.2:p.Ser30Gly | |
| ENST00000377443.6:c.268A>G | ENSP00000366662.2:p.Ser90Gly | |
| ENST00000476083.1:n.99-1765A>G | ||
| ENST00000549778.5:c.172A>G | ENSP00000447108.1:p.Ser58Gly | |
| NM_001215.3:c.268A>G | NP_001206.2:p.Ser90Gly | |
| NM_001270500.1:c.268A>G | NP_001257429.1:p.Ser90Gly | |
| NM_001270501.1:c.88A>G | NP_001257430.1:p.Ser30Gly | |
| NM_001270502.1:c.25-1765A>G | NP_001257431.1:n.25-1765A>G | |
| XM_011542083.1:c.280A>G | XP_011540385.1:p.Ser94Gly | |
| XM_011542084.1:c.280A>G | XP_011540386.1:p.Ser94Gly | |
| XM_011542083.3:c.280A>G | XP_011540385.1:p.Ser94Gly | |
| XM_011542084.3:c.280A>G | XP_011540386.1:p.Ser94Gly | |
| NM_001215.4:c.268A>G MANE Select | NP_001206.2:p.Ser90Gly | |
| NM_001270500.2:c.268A>G | NP_001257429.1:p.Ser90Gly | |
| NM_001270501.2:c.88A>G | NP_001257430.1:p.Ser30Gly | |
| NM_001270502.2:c.25-1765A>G | NP_001257431.1:n.25-1765A>G |