Linked Data
dbSNP Id:
rs5746027
ExAC:
1:12253074 G / A
gnomAD v2:
1-12253074-G-A
gnomAD v3:
1-12193017-G-A
gnomAD v4:
1-12193017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12193017G>A , CM000663.2:g.12193017G>A | GRCh38 |
| NC_000001.10:g.12253074G>A , CM000663.1:g.12253074G>A | GRCh37 |
| NC_000001.9:g.12175661G>A | NCBI36 |
| NG_029791.1:g.31015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376259.7:c.706G>A MANE Select | ENSP00000365435.3:p.Ala236Thr | |
| ENST00000376259.6:c.706G>A | ENSP00000365435.3:p.Ala236Thr | |
| ENST00000492361.1:n.695G>A | ||
| NM_001066.2:c.706G>A | NP_001057.1:p.Ala236Thr | |
| XM_011542060.1:c.706G>A | XP_011540362.1:p.Ala236Thr | |
| XM_011542061.1:c.706G>A | XP_011540363.1:p.Ala236Thr | |
| XM_011542062.1:c.685G>A | XP_011540364.1:p.Ala229Thr | |
| XM_011542063.1:c.706G>A | XP_011540365.1:p.Ala236Thr | |
| XM_011542060.2:c.706G>A | XP_011540362.1:p.Ala236Thr | |
| XM_011542063.2:c.706G>A | XP_011540365.1:p.Ala236Thr | |
| XM_017002211.1:c.706G>A | XP_016857700.1:p.Ala236Thr | |
| XM_017002214.1:c.121G>A | XP_016857703.1:p.Ala41Thr | |
| XM_017002215.1:c.121G>A | XP_016857704.1:p.Ala41Thr | |
| NM_001066.3:c.706G>A MANE Select | NP_001057.1:p.Ala236Thr |