COSMIC:
COSM4158672 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81825457 (SAS)
Genomes Max Group AF
0.8136128 (SAS)
Exomes Max Group AF
0.8174414 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8768017G>A , CM000665.2:g.8768017G>A | GRCh38 |
| NC_000003.11:g.8809703G>A , CM000665.1:g.8809703G>A | GRCh37 |
| NC_000003.10:g.8784703G>A | NCBI36 |
| NG_008797.2:g.39208G>A , LRG_329:g.39208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316793.8:c.171C>T (OXTR) MANE Select | ENSP00000324270.2:p.Asn57= | |
| ENST00000316793.7:c.171C>T (OXTR) | ENSP00000324270.2:p.Asn57= | |
| ENST00000449615.1:c.171C>T (OXTR) | ENSP00000389587.1:p.Asn57= | |
| ENST00000472766.1:n.156-9460G>A (CAV3) | ||
| NM_000916.3:c.171C>T (OXTR) | NP_000907.2:p.Asn57= | |
| XM_011533762.1:c.171C>T (OXTR) | XP_011532064.1:p.Asn57= | |
| XM_011533763.1:c.171C>T (OXTR) | XP_011532065.1:p.Asn57= | |
| NM_001354653.1:c.171C>T (OXTR) | NP_001341582.1:p.Asn57= | |
| NM_001354654.1:c.171C>T (OXTR) | NP_001341583.1:p.Asn57= | |
| NM_001354655.1:c.171C>T (OXTR) | NP_001341584.1:p.Asn57= | |
| NM_001354656.1:c.171C>T (OXTR) | NP_001341585.1:p.Asn57= | |
| NM_001354656.2:c.171C>T (OXTR) | NP_001341585.1:p.Asn57= | |
| NM_000916.4:c.171C>T (OXTR) MANE Select | NP_000907.2:p.Asn57= | |
| NM_001354653.2:c.171C>T (OXTR) | NP_001341582.1:p.Asn57= | |
| NM_001354654.2:c.171C>T (OXTR) | NP_001341583.1:p.Asn57= | |
| NM_001354655.2:c.171C>T (OXTR) | NP_001341584.1:p.Asn57= | |
| NM_001354656.3:c.171C>T (OXTR) | NP_001341585.1:p.Asn57= |