HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142753655A>G , CM000669.2:g.142753655A>G | GRCh38 |
NC_000007.13:g.142461506A>G , CM000669.1:g.142461506A>G | GRCh37 |
NC_000007.12:g.142141080A>G | NCBI36 |
NG_008307.3:g.9172A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610416.2:c.370+32469A>G (TRBC1) | ENSP00000482915.1:n.370+32469A>G | |
ENST00000612126.4:c.591+1088A>G (PRSS1) | ENSP00000479959.1:n.591+1088A>G | |
ENST00000633114.1:c.321+1761A>G (PRSS2) | ENSP00000487822.1:n.321+1761A>G | |
ENST00000634019.1:c.82+4864A>G (PRSS2) | ENSP00000488594.1:n.82+4864A>G |