Linked Data
ClinVar Variation Id:
710721
dbSNP Id:
rs149557877
ExAC:
X:153172083 G / A
gnomAD v2:
X-153172083-G-A
gnomAD v3:
X-153906629-G-A
gnomAD v4:
X-153906629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906629G>A , CM000685.2:g.153906629G>A | GRCh38 |
| NC_000023.10:g.153172083G>A , CM000685.1:g.153172083G>A | GRCh37 |
| NC_000023.9:g.152825277G>A | NCBI36 |
| NG_008687.1:g.6656G>A | |
| NG_009645.3:g.7595C>T | |
| NG_013220.1:g.24632C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646375.2:c.1017G>A (AVPR2) MANE Select | ENSP00000496396.1:p.Leu339= | |
| ENST00000434679.6:c.*383G>A (AVPR2) | ENSP00000393397.1:n.*383G>A | |
| ENST00000642393.1:c.97+2441C>T | ||
| ENST00000646191.1:c.97+2441C>T | ||
| ENST00000646375.1:c.1017G>A (AVPR2) | ENSP00000496396.1:p.Leu339= | |
| ENST00000337474.5:c.1017G>A (AVPR2) | ENSP00000338072.5:p.Leu339= | |
| ENST00000358927.6:c.1017G>A (AVPR2) | ENSP00000351805.2:p.Leu339= | |
| ENST00000370049.1:c.*193G>A (AVPR2) | ENSP00000359066.1:n.*193G>A | |
| ENST00000430697.1:c.929G>A (AVPR2) | ENSP00000393513.1:p.Cys310Tyr | |
| ENST00000434679.5:c.*383G>A (AVPR2) | ENSP00000393397.1:n.*383G>A | |
| ENST00000464967.5:n.154+2441C>T (L1CAM) | ||
| NM_000054.4:c.1017G>A (AVPR2) | NP_000045.1:p.Leu339= | |
| NM_001146151.1:c.*193G>A (AVPR2) | NP_001139623.1:n.*193G>A | |
| NR_027419.1:n.1064G>A (AVPR2) | ||
| XM_006724828.2:c.1017G>A (AVPR2) | XP_006724891.1:p.Leu339= | |
| NM_000054.5:c.1017G>A (AVPR2) | NP_000045.1:p.Leu339= | |
| NM_001146151.2:c.*193G>A (AVPR2) | NP_001139623.1:n.*193G>A | |
| XM_006724828.3:c.1017G>A (AVPR2) | XP_006724891.1:p.Leu339= | |
| NM_000054.6:c.1017G>A (AVPR2) | NP_000045.1:p.Leu339= | |
| NM_001146151.3:c.*193G>A (AVPR2) | NP_001139623.1:n.*193G>A | |
| NR_027419.2:n.970G>A (AVPR2) | ||
| NM_000054.7:c.1017G>A (AVPR2) MANE Select | NP_000045.1:p.Leu339= |