Linked Data
dbSNP Id:
rs10263447
gnomAD v2:
7-34859989-G-C
gnomAD v3:
7-34820377-G-C
gnomAD v4:
7-34820377-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34820377G>C , CM000669.2:g.34820377G>C | GRCh38 |
| NC_000007.13:g.34859989G>C , CM000669.1:g.34859989G>C | GRCh37 |
| NC_000007.12:g.34826514G>C | NCBI36 |
| NG_012185.1:g.167093G>C | |
| NG_021366.1:g.18955C>G | |
| NG_012185.2:g.167093G>C | |
| NG_021366.2:g.18955C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360581.6:c.479-7024G>C (NPSR1) MANE Select | ENSP00000353788.1:n.479-7024G>C | |
| ENST00000359791.5:c.479-7024G>C (NPSR1) | ENSP00000352839.1:n.479-7024G>C | |
| ENST00000360581.5:c.479-7024G>C (NPSR1) | ENSP00000353788.1:n.479-7024G>C | |
| ENST00000381539.3:c.479-7024G>C (NPSR1) | ENSP00000370950.3:n.479-7024G>C | |
| ENST00000381542.5:c.281-7024G>C (NPSR1) | ENSP00000370953.1:n.281-7024G>C | |
| ENST00000381544.6:c.375-7024G>C (NPSR1) | ENSP00000370955.2:n.375-7024G>C | |
| ENST00000396095.6:c.385-7024G>C (NPSR1) | ENSP00000379402.2:n.385-7024G>C | |
| ENST00000531252.5:c.446-7024G>C (NPSR1) | ENSP00000433258.1:n.446-7024G>C | |
| NM_001300933.1:c.446-7024G>C (NPSR1) | NP_001287862.1:n.446-7024G>C | |
| NM_001300934.1:c.281-7024G>C (NPSR1) | NP_001287863.1:n.281-7024G>C | |
| NM_001300935.1:c.479-7024G>C (NPSR1) | NP_001287864.1:n.479-7024G>C | |
| NM_207172.1:c.479-7024G>C (NPSR1) | NP_997055.1:n.479-7024G>C | |
| NM_207173.1:c.479-7024G>C (NPSR1) | NP_997056.1:n.479-7024G>C | |
| NR_015356.2:n.171+13784C>G (NPSR1-AS1) | ||
| NM_001300933.2:c.446-7024G>C (NPSR1) | NP_001287862.1:n.446-7024G>C | |
| NM_207172.2:c.479-7024G>C (NPSR1) MANE Select | NP_997055.1:n.479-7024G>C | |
| NM_207173.2:c.479-7024G>C (NPSR1) | NP_997056.1:n.479-7024G>C | |
| NM_001300934.2:c.281-7024G>C (NPSR1) | NP_001287863.1:n.281-7024G>C | |
| NM_001300935.2:c.479-7024G>C (NPSR1) | NP_001287864.1:n.479-7024G>C |