HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190310188T>G , CM000665.2:g.190310188T>G | GRCh38 |
NC_000003.11:g.190027977T>G , CM000665.1:g.190027977T>G | GRCh37 |
NC_000003.10:g.191510671T>G | NCBI36 |
NG_021418.1:g.17259A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.454A>C (CLDN1) MANE Select | ENSP00000295522.3:p.Met152Leu | |
ENST00000295522.3:c.454A>C (CLDN1) | ENSP00000295522.3:p.Met152Leu | |
ENST00000490800.1:n.413A>C (CLDN1) | ||
NM_021101.4:c.454A>C (CLDN1) | NP_066924.1:p.Met152Leu | |
XR_001741069.1:n.203-4705T>G | ||
NM_021101.5:c.454A>C (CLDN1) MANE Select | NP_066924.1:p.Met152Leu | |
NM_001378492.1:c.-445-4705T>G (CLDN16) | NP_001365421.1:n.-445-4705T>G | |
NM_001378493.1:c.-279+19597T>G (CLDN16) | NP_001365422.1:n.-279+19597T>G |