Linked Data
dbSNP Id:
rs11865038
ExAC:
16:31095171 C / T
gnomAD v2:
16-31095171-C-T
gnomAD v3:
16-31083850-C-T
gnomAD v4:
16-31083850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31083850C>T , CM000678.2:g.31083850C>T | GRCh38 |
| NC_000016.9:g.31095171C>T , CM000678.1:g.31095171C>T | GRCh37 |
| NC_000016.8:g.31002672C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280606.7:c.1643-41G>A (PRSS53) MANE Select | ENSP00000280606.6:n.1643-41G>A | |
| ENST00000280606.6:c.1643-41G>A (PRSS53) | ENSP00000280606.6:n.1643-41G>A | |
| ENST00000300850.5:c.*758C>T (ZNF646) MANE Select | ENSP00000300850.5:n.*758C>T | |
| ENST00000394979.2:c.*2036C>T (ZNF646) | ENSP00000378429.2:n.*2036C>T | |
| ENST00000486499.1:n.5076G>A (PRSS53) | ||
| ENST00000533518.5:c.1992-41G>A | ||
| NM_001039503.2:c.1643-41G>A (PRSS53) | NP_001034592.1:n.1643-41G>A | |
| XM_011545816.1:c.1567-41G>A (PRSS53) | XP_011544118.1:n.1567-41G>A | |
| XM_011545817.1:c.*207G>A (PRSS53) | XP_011544119.1:n.*207G>A | |
| XM_011545818.1:c.1784-41G>A (PRSS53) | XP_011544120.1:n.1784-41G>A | |
| XM_011545819.1:c.1426-41G>A (PRSS53) | XP_011544121.1:n.1426-41G>A | |
| XM_011545820.1:c.*207G>A (PRSS53) | XP_011544122.1:n.*207G>A | |
| XM_011545816.2:c.1567-41G>A (PRSS53) | XP_011544118.1:n.1567-41G>A | |
| XM_011545817.2:c.*207G>A (PRSS53) | XP_011544119.1:n.*207G>A | |
| XM_011545818.3:c.1784-41G>A (PRSS53) | XP_011544120.1:n.1784-41G>A | |
| XM_011545819.2:c.1426-41G>A (PRSS53) | XP_011544121.1:n.1426-41G>A | |
| XM_011545820.2:c.*207G>A (PRSS53) | XP_011544122.1:n.*207G>A | |
| NM_014699.4:c.*758C>T (ZNF646) MANE Select | NP_055514.3:n.*758C>T | |
| NM_001039503.3:c.1643-41G>A (PRSS53) MANE Select | NP_001034592.1:n.1643-41G>A |