Linked Data
ClinVar Variation Id:
1756567
ClinVar RCV Id:
RCV002378219
dbSNP Id:
rs763492611
ExAC:
7:142458434 G / A
gnomAD v2:
7-142458434-G-A
gnomAD v3:
7-142750583-G-A
gnomAD v4:
7-142750583-G-A
COSMIC:
COSM6176360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750583G>A , CM000669.2:g.142750583G>A | GRCh38 |
| NC_000007.13:g.142458434G>A , CM000669.1:g.142458434G>A | GRCh37 |
| NC_000007.12:g.142138008G>A | NCBI36 |
| NG_008307.3:g.6100G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311737.12:c.69G>A (PRSS1) MANE Select | ENSP00000308720.7:p.Lys23= | |
| ENST00000311737.11:c.69G>A (PRSS1) | ENSP00000308720.7:p.Lys23= | |
| ENST00000485223.1:n.54-46G>A (PRSS1) | ||
| ENST00000486171.5:c.69G>A (PRSS1) | ENSP00000417854.1:p.Lys23= | |
| ENST00000497041.1:n.73G>A (PRSS1) | ||
| ENST00000610416.2:c.370+29397G>A (TRBC1) | ENSP00000482915.1:n.370+29397G>A | |
| ENST00000612126.4:c.69G>A (PRSS1) | ENSP00000479959.1:p.Lys23= | |
| ENST00000619214.4:c.69G>A (PRSS1) | ENSP00000481361.1:p.Lys23= | |
| ENST00000633114.1:c.69G>A (PRSS2) | ENSP00000487822.1:p.Lys23= | |
| ENST00000634019.1:c.82+1792G>A (PRSS2) | ENSP00000488594.1:n.82+1792G>A | |
| NM_002769.4:c.69G>A (PRSS1) | NP_002760.1:p.Lys23= | |
| XM_011516411.1:c.744G>A (PRSS1) | XP_011514713.1:p.Lys248= | |
| NM_002769.5:c.69G>A (PRSS1) MANE Select | NP_002760.1:p.Lys23= | |
| NR_172947.1:n.82G>A (PRSS1) | ||
| NR_172948.1:n.82G>A (PRSS1) | ||
| NR_172949.1:n.54-46G>A (PRSS1) | ||
| NR_172950.1:n.53+1059G>A (PRSS1) | ||
| NR_172951.1:n.54-46G>A (PRSS1) |