Linked Data
dbSNP Id:
rs1295249245
gnomAD v2:
X-153172187-C-T
gnomAD v3:
X-153906733-C-T
gnomAD v4:
X-153906733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906733C>T , CM000685.2:g.153906733C>T | GRCh38 |
| NC_000023.10:g.153172187C>T , CM000685.1:g.153172187C>T | GRCh37 |
| NC_000023.9:g.152825381C>T | NCBI36 |
| NG_008687.1:g.6760C>T | |
| NG_009645.3:g.7491G>A | |
| NG_013220.1:g.24528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.*5C>T (AVPR2) MANE Select | ENSP00000496396.1:n.*5C>T | |
| ENST00000434679.6:c.*487C>T (AVPR2) | ENSP00000393397.1:n.*487C>T | |
| ENST00000642393.1:c.97+2337G>A | ||
| ENST00000646191.1:c.97+2337G>A | ||
| ENST00000646375.1:c.*5C>T (AVPR2) | ENSP00000496396.1:n.*5C>T | |
| ENST00000337474.5:c.*5C>T (AVPR2) | ENSP00000338072.5:n.*5C>T | |
| ENST00000358927.6:c.*5C>T (AVPR2) | ENSP00000351805.2:n.*5C>T | |
| ENST00000370049.1:c.*297C>T (AVPR2) | ENSP00000359066.1:n.*297C>T | |
| ENST00000430697.1:c.1033C>T (AVPR2) | ENSP00000393513.1:p.Leu345= | |
| ENST00000434679.5:c.*487C>T (AVPR2) | ENSP00000393397.1:n.*487C>T | |
| ENST00000464967.5:n.154+2337G>A (L1CAM) | ||
| NM_000054.4:c.*5C>T (AVPR2) | NP_000045.1:n.*5C>T | |
| NM_001146151.1:c.*297C>T (AVPR2) | NP_001139623.1:n.*297C>T | |
| NR_027419.1:n.1168C>T (AVPR2) | ||
| XM_006724828.2:c.*5C>T (AVPR2) | XP_006724891.1:n.*5C>T | |
| NM_000054.5:c.*5C>T (AVPR2) | NP_000045.1:n.*5C>T | |
| NM_001146151.2:c.*297C>T (AVPR2) | NP_001139623.1:n.*297C>T | |
| XM_006724828.3:c.*5C>T (AVPR2) | XP_006724891.1:n.*5C>T | |
| NM_000054.6:c.*5C>T (AVPR2) | NP_000045.1:n.*5C>T | |
| NM_001146151.3:c.*297C>T (AVPR2) | NP_001139623.1:n.*297C>T | |
| NR_027419.2:n.1074C>T (AVPR2) | ||
| NM_000054.7:c.*5C>T (AVPR2) MANE Select | NP_000045.1:n.*5C>T |