Linked Data
dbSNP Id:
rs1379928
gnomAD v2:
7-34701289-A-G
gnomAD v3:
7-34661677-A-G
gnomAD v4:
7-34661677-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34661677A>G , CM000669.2:g.34661677A>G | GRCh38 |
| NC_000007.13:g.34701289A>G , CM000669.1:g.34701289A>G | GRCh37 |
| NC_000007.12:g.34667814A>G | NCBI36 |
| NG_012185.1:g.8393A>G | |
| NG_021366.1:g.177655T>C | |
| NG_012185.2:g.8393A>G | |
| NG_021366.2:g.177655T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360581.6:c.147+3118A>G (NPSR1) MANE Select | ENSP00000353788.1:n.147+3118A>G | |
| ENST00000359791.5:c.147+3118A>G (NPSR1) | ENSP00000352839.1:n.147+3118A>G | |
| ENST00000360581.5:c.147+3118A>G (NPSR1) | ENSP00000353788.1:n.147+3118A>G | |
| ENST00000381539.3:c.147+3118A>G (NPSR1) | ENSP00000370950.3:n.147+3118A>G | |
| ENST00000381542.5:c.147+3118A>G (NPSR1) | ENSP00000370953.1:n.147+3118A>G | |
| ENST00000381544.6:c.147+3118A>G (NPSR1) | ENSP00000370955.2:n.147+3118A>G | |
| ENST00000381553.7:c.147+3118A>G (NPSR1) | ENSP00000370965.3:n.147+3118A>G | |
| ENST00000396095.6:c.147+3118A>G (NPSR1) | ENSP00000379402.2:n.147+3118A>G | |
| ENST00000465305.5:c.147+3118A>G (NPSR1) | ENSP00000434955.1:n.147+3118A>G | |
| ENST00000531252.5:c.147+3118A>G (NPSR1) | ENSP00000433258.1:n.147+3118A>G | |
| NM_001300933.1:c.147+3118A>G (NPSR1) | NP_001287862.1:n.147+3118A>G | |
| NM_001300934.1:c.147+3118A>G (NPSR1) | NP_001287863.1:n.147+3118A>G | |
| NM_001300935.1:c.147+3118A>G (NPSR1) | NP_001287864.1:n.147+3118A>G | |
| NM_207172.1:c.147+3118A>G (NPSR1) | NP_997055.1:n.147+3118A>G | |
| NM_207173.1:c.147+3118A>G (NPSR1) | NP_997056.1:n.147+3118A>G | |
| NR_033664.1:n.279+67060T>C (NPSR1-AS1) | ||
| NR_033665.1:n.279+67060T>C (NPSR1-AS1) | ||
| NM_001300933.2:c.147+3118A>G (NPSR1) | NP_001287862.1:n.147+3118A>G | |
| NM_207172.2:c.147+3118A>G (NPSR1) MANE Select | NP_997055.1:n.147+3118A>G | |
| NM_207173.2:c.147+3118A>G (NPSR1) | NP_997056.1:n.147+3118A>G | |
| NM_001300934.2:c.147+3118A>G (NPSR1) | NP_001287863.1:n.147+3118A>G | |
| NM_001300935.2:c.147+3118A>G (NPSR1) | NP_001287864.1:n.147+3118A>G |