HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190310198G>A , CM000665.2:g.190310198G>A | GRCh38 |
NC_000003.11:g.190027987G>A , CM000665.1:g.190027987G>A | GRCh37 |
NC_000003.10:g.191510681G>A | NCBI36 |
NG_021418.1:g.17249C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.444C>T (CLDN1) MANE Select | ENSP00000295522.3:p.Phe148= | |
ENST00000295522.3:c.444C>T (CLDN1) | ENSP00000295522.3:p.Phe148= | |
ENST00000490800.1:n.403C>T (CLDN1) | ||
NM_021101.4:c.444C>T (CLDN1) | NP_066924.1:p.Phe148= | |
XR_001741069.1:n.203-4695G>A | ||
NM_021101.5:c.444C>T (CLDN1) MANE Select | NP_066924.1:p.Phe148= | |
NM_001378492.1:c.-445-4695G>A (CLDN16) | NP_001365421.1:n.-445-4695G>A | |
NM_001378493.1:c.-279+19607G>A (CLDN16) | NP_001365422.1:n.-279+19607G>A |