COSMIC:
COSM447068 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35086262 (MID)
Genomes Max Group AF
0.34168168 (NFE)
Exomes Max Group AF
0.35181481 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8767498G>A , CM000665.2:g.8767498G>A | GRCh38 |
| NC_000003.11:g.8809184G>A , CM000665.1:g.8809184G>A | GRCh37 |
| NC_000003.10:g.8784184G>A | NCBI36 |
| NG_008797.2:g.38689G>A , LRG_329:g.38689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316793.8:c.690C>T (OXTR) MANE Select | ENSP00000324270.2:p.Asn230= | |
| ENST00000316793.7:c.690C>T (OXTR) | ENSP00000324270.2:p.Asn230= | |
| ENST00000472766.1:n.156-9979G>A (CAV3) | ||
| NM_000916.3:c.690C>T (OXTR) | NP_000907.2:p.Asn230= | |
| XM_011533762.1:c.690C>T (OXTR) | XP_011532064.1:p.Asn230= | |
| XM_011533763.1:c.690C>T (OXTR) | XP_011532065.1:p.Asn230= | |
| NM_001354653.1:c.690C>T (OXTR) | NP_001341582.1:p.Asn230= | |
| NM_001354654.1:c.690C>T (OXTR) | NP_001341583.1:p.Asn230= | |
| NM_001354655.1:c.690C>T (OXTR) | NP_001341584.1:p.Asn230= | |
| NM_001354656.1:c.690C>T (OXTR) | NP_001341585.1:p.Asn230= | |
| NM_001354656.2:c.690C>T (OXTR) | NP_001341585.1:p.Asn230= | |
| NM_000916.4:c.690C>T (OXTR) MANE Select | NP_000907.2:p.Asn230= | |
| NM_001354653.2:c.690C>T (OXTR) | NP_001341582.1:p.Asn230= | |
| NM_001354654.2:c.690C>T (OXTR) | NP_001341583.1:p.Asn230= | |
| NM_001354655.2:c.690C>T (OXTR) | NP_001341584.1:p.Asn230= | |
| NM_001354656.3:c.690C>T (OXTR) | NP_001341585.1:p.Asn230= |