Linked Data
ClinVar Variation Id:
1740479
ClinVar RCV Id:
RCV002333898
MyVariant Identifiers:
chr7:g.142459865T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752014T>G , CM000669.2:g.142752014T>G | GRCh38 |
| NC_000007.13:g.142459865T>G , CM000669.1:g.142459865T>G | GRCh37 |
| NC_000007.12:g.142139439T>G | NCBI36 |
| NG_008307.3:g.7531T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.441T>G (PRSS1) MANE Select | ENSP00000308720.7:p.Thr147= | |
| ENST00000311737.11:c.441T>G (PRSS1) | ENSP00000308720.7:p.Thr147= | |
| ENST00000463701.1:n.905T>G (PRSS1) | ||
| ENST00000486171.5:c.483T>G (PRSS1) | ENSP00000417854.1:p.Thr161= | |
| ENST00000492062.1:c.291T>G (PRSS1) | ENSP00000419912.1:p.Thr97= | |
| ENST00000610416.2:c.370+30828T>G (TRBC1) | ENSP00000482915.1:n.370+30828T>G | |
| ENST00000612126.4:c.441T>G (PRSS1) | ENSP00000479959.1:p.Thr147= | |
| ENST00000619214.4:c.411T>G (PRSS1) | ENSP00000481361.1:p.Thr137= | |
| ENST00000633114.1:c.321+120T>G (PRSS2) | ENSP00000487822.1:n.321+120T>G | |
| ENST00000634019.1:c.82+3223T>G (PRSS2) | ENSP00000488594.1:n.82+3223T>G | |
| NM_002769.4:c.441T>G (PRSS1) | NP_002760.1:p.Thr147= | |
| XM_011516411.1:c.1116T>G (PRSS1) | XP_011514713.1:p.Thr372= | |
| NM_002769.5:c.441T>G (PRSS1) MANE Select | NP_002760.1:p.Thr147= | |
| NR_172947.1:n.383T>G (PRSS1) | ||
| NR_172948.1:n.380T>G (PRSS1) | ||
| NR_172949.1:n.380T>G (PRSS1) | ||
| NR_172950.1:n.294T>G (PRSS1) | ||
| NR_172951.1:n.228T>G (PRSS1) |