Linked Data
dbSNP Id:
rs1465472512
gnomAD v2:
X-153170907-A-C
gnomAD v3:
X-153905453-A-C
gnomAD v4:
X-153905453-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153905453A>C , CM000685.2:g.153905453A>C | GRCh38 |
| NC_000023.10:g.153170907A>C , CM000685.1:g.153170907A>C | GRCh37 |
| NC_000023.9:g.152824101A>C | NCBI36 |
| NG_008687.1:g.5480A>C | |
| NG_009645.3:g.8771T>G | |
| NG_013220.1:g.25808T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.26-79A>C (AVPR2) MANE Select | ENSP00000496396.1:n.26-79A>C | |
| ENST00000434679.6:c.25+283A>C (AVPR2) | ENSP00000393397.1:n.25+283A>C | |
| ENST00000642393.1:c.97+3617T>G | ||
| ENST00000646191.1:c.97+3617T>G | ||
| ENST00000646375.1:c.26-79A>C (AVPR2) | ENSP00000496396.1:n.26-79A>C | |
| ENST00000337474.5:c.26-79A>C (AVPR2) | ENSP00000338072.5:n.26-79A>C | |
| ENST00000358927.6:c.26-79A>C (AVPR2) | ENSP00000351805.2:n.26-79A>C | |
| ENST00000370049.1:c.26-79A>C (AVPR2) | ENSP00000359066.1:n.26-79A>C | |
| ENST00000430697.1:c.26-79A>C (AVPR2) | ENSP00000393513.1:n.26-79A>C | |
| ENST00000434679.5:c.25+283A>C (AVPR2) | ENSP00000393397.1:n.25+283A>C | |
| ENST00000464967.5:n.154+3617T>G (L1CAM) | ||
| NM_000054.4:c.26-79A>C (AVPR2) | NP_000045.1:n.26-79A>C | |
| NM_001146151.1:c.26-79A>C (AVPR2) | NP_001139623.1:n.26-79A>C | |
| NR_027419.1:n.559+283A>C (AVPR2) | ||
| XM_006724828.2:c.26-79A>C (AVPR2) | XP_006724891.1:n.26-79A>C | |
| NM_000054.5:c.26-79A>C (AVPR2) | NP_000045.1:n.26-79A>C | |
| NM_001146151.2:c.26-79A>C (AVPR2) | NP_001139623.1:n.26-79A>C | |
| XM_006724828.3:c.26-79A>C (AVPR2) | XP_006724891.1:n.26-79A>C | |
| NM_000054.6:c.26-79A>C (AVPR2) | NP_000045.1:n.26-79A>C | |
| NM_001146151.3:c.26-79A>C (AVPR2) | NP_001139623.1:n.26-79A>C | |
| NR_027419.2:n.465+283A>C (AVPR2) | ||
| NM_000054.7:c.26-79A>C (AVPR2) MANE Select | NP_000045.1:n.26-79A>C |