Linked Data
dbSNP Id:
rs199931737
gnomAD v4:
7-142751969-T-G
MyVariant Identifiers:
chr7:g.142459820T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751969T>G , CM000669.2:g.142751969T>G | GRCh38 |
| NC_000007.13:g.142459820T>G , CM000669.1:g.142459820T>G | GRCh37 |
| NC_000007.12:g.142139394T>G | NCBI36 |
| NG_008307.3:g.7486T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.396T>G (PRSS1) MANE Select | ENSP00000308720.7:p.Pro132= | |
| ENST00000311737.11:c.396T>G (PRSS1) | ENSP00000308720.7:p.Pro132= | |
| ENST00000463701.1:n.860T>G (PRSS1) | ||
| ENST00000485223.1:n.1394T>G (PRSS1) | ||
| ENST00000486171.5:c.438T>G (PRSS1) | ENSP00000417854.1:p.Pro146= | |
| ENST00000492062.1:c.246T>G (PRSS1) | ENSP00000419912.1:p.Pro82= | |
| ENST00000610416.2:c.370+30783T>G (TRBC1) | ENSP00000482915.1:n.370+30783T>G | |
| ENST00000612126.4:c.396T>G (PRSS1) | ENSP00000479959.1:p.Pro132= | |
| ENST00000619214.4:c.366T>G (PRSS1) | ENSP00000481361.1:p.Pro122= | |
| ENST00000633114.1:c.321+75T>G (PRSS2) | ENSP00000487822.1:n.321+75T>G | |
| ENST00000634019.1:c.82+3178T>G (PRSS2) | ENSP00000488594.1:n.82+3178T>G | |
| NM_002769.4:c.396T>G (PRSS1) | NP_002760.1:p.Pro132= | |
| XM_011516411.1:c.1071T>G (PRSS1) | XP_011514713.1:p.Pro357= | |
| NM_002769.5:c.396T>G (PRSS1) MANE Select | NP_002760.1:p.Pro132= | |
| NR_172947.1:n.338T>G (PRSS1) | ||
| NR_172948.1:n.335T>G (PRSS1) | ||
| NR_172949.1:n.335T>G (PRSS1) | ||
| NR_172950.1:n.249T>G (PRSS1) | ||
| NR_172951.1:n.183T>G (PRSS1) |