Linked Data
ClinVar Variation Id:
374351
ClinVar RCV Id:
RCV000414968
dbSNP Id:
rs1057518723
gnomAD v4:
X-153905841-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153905841G>T , CM000685.2:g.153905841G>T | GRCh38 |
| NC_000023.10:g.153171295G>T , CM000685.1:g.153171295G>T | GRCh37 |
| NC_000023.9:g.152824489G>T | NCBI36 |
| NG_008687.1:g.5868G>T | |
| NG_009645.3:g.8383C>A | |
| NG_013220.1:g.25420C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.335G>T (AVPR2) MANE Select | ENSP00000496396.1:p.Cys112Phe | |
| ENST00000434679.6:c.26-178G>T (AVPR2) | ENSP00000393397.1:n.26-178G>T | |
| ENST00000642393.1:c.97+3229C>A | ||
| ENST00000646191.1:c.97+3229C>A | ||
| ENST00000646375.1:c.335G>T (AVPR2) | ENSP00000496396.1:p.Cys112Phe | |
| ENST00000337474.5:c.335G>T (AVPR2) | ENSP00000338072.5:p.Cys112Phe | |
| ENST00000358927.6:c.335G>T (AVPR2) | ENSP00000351805.2:p.Cys112Phe | |
| ENST00000370049.1:c.335G>T (AVPR2) | ENSP00000359066.1:p.Cys112Phe | |
| ENST00000430697.1:c.335G>T (AVPR2) | ENSP00000393513.1:p.Cys112Phe | |
| ENST00000434679.5:c.26-178G>T (AVPR2) | ENSP00000393397.1:n.26-178G>T | |
| ENST00000464967.5:n.154+3229C>A (L1CAM) | ||
| NM_000054.4:c.335G>T (AVPR2) | NP_000045.1:p.Cys112Phe | |
| NM_001146151.1:c.335G>T (AVPR2) | NP_001139623.1:p.Cys112Phe | |
| NR_027419.1:n.560-178G>T (AVPR2) | ||
| XM_006724828.2:c.335G>T (AVPR2) | XP_006724891.1:p.Cys112Phe | |
| NM_000054.5:c.335G>T (AVPR2) | NP_000045.1:p.Cys112Phe | |
| NM_001146151.2:c.335G>T (AVPR2) | NP_001139623.1:p.Cys112Phe | |
| XM_006724828.3:c.335G>T (AVPR2) | XP_006724891.1:p.Cys112Phe | |
| NM_000054.6:c.335G>T (AVPR2) | NP_000045.1:p.Cys112Phe | |
| NM_001146151.3:c.335G>T (AVPR2) | NP_001139623.1:p.Cys112Phe | |
| NR_027419.2:n.466-178G>T (AVPR2) | ||
| NM_000054.7:c.335G>T (AVPR2) MANE Select | NP_000045.1:p.Cys112Phe |