Linked Data
dbSNP Id:
rs1264201914
gnomAD v4:
7-142751888-C-T
MyVariant Identifiers:
chr7:g.142459739C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751888C>T , CM000669.2:g.142751888C>T | GRCh38 |
| NC_000007.13:g.142459739C>T , CM000669.1:g.142459739C>T | GRCh37 |
| NC_000007.12:g.142139313C>T | NCBI36 |
| NG_008307.3:g.7405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.315C>T (PRSS1) MANE Select | ENSP00000308720.7:p.Asn105= | |
| ENST00000311737.11:c.315C>T (PRSS1) | ENSP00000308720.7:p.Asn105= | |
| ENST00000463701.1:n.779C>T (PRSS1) | ||
| ENST00000485223.1:n.1313C>T (PRSS1) | ||
| ENST00000486171.5:c.357C>T (PRSS1) | ENSP00000417854.1:p.Asn119= | |
| ENST00000492062.1:c.165C>T (PRSS1) | ENSP00000419912.1:p.Asn55= | |
| ENST00000610416.2:c.370+30702C>T (TRBC1) | ENSP00000482915.1:n.370+30702C>T | |
| ENST00000612126.4:c.315C>T (PRSS1) | ENSP00000479959.1:p.Asn105= | |
| ENST00000619214.4:c.285C>T (PRSS1) | ENSP00000481361.1:p.Asn95= | |
| ENST00000633114.1:c.315C>T (PRSS2) | ENSP00000487822.1:p.Asn105= | |
| ENST00000634019.1:c.82+3097C>T (PRSS2) | ENSP00000488594.1:n.82+3097C>T | |
| NM_002769.4:c.315C>T (PRSS1) | NP_002760.1:p.Asn105= | |
| XM_011516411.1:c.990C>T (PRSS1) | XP_011514713.1:p.Asn330= | |
| NM_002769.5:c.315C>T (PRSS1) MANE Select | NP_002760.1:p.Asn105= | |
| NR_172947.1:n.257C>T (PRSS1) | ||
| NR_172948.1:n.254C>T (PRSS1) | ||
| NR_172949.1:n.254C>T (PRSS1) | ||
| NR_172950.1:n.168C>T (PRSS1) | ||
| NR_172951.1:n.140-38C>T (PRSS1) |