HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190310214C>T , CM000665.2:g.190310214C>T | GRCh38 |
NC_000003.11:g.190028003C>T , CM000665.1:g.190028003C>T | GRCh37 |
NC_000003.10:g.191510697C>T | NCBI36 |
NG_021418.1:g.17233G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.428G>A (CLDN1) MANE Select | ENSP00000295522.3:p.Arg143Lys | |
ENST00000295522.3:c.428G>A (CLDN1) | ENSP00000295522.3:p.Arg143Lys | |
ENST00000490800.1:n.387G>A (CLDN1) | ||
NM_021101.4:c.428G>A (CLDN1) | NP_066924.1:p.Arg143Lys | |
XR_001741069.1:n.203-4679C>T | ||
NM_021101.5:c.428G>A (CLDN1) MANE Select | NP_066924.1:p.Arg143Lys | |
NM_001378492.1:c.-445-4679C>T (CLDN16) | NP_001365421.1:n.-445-4679C>T | |
NM_001378493.1:c.-279+19623C>T (CLDN16) | NP_001365422.1:n.-279+19623C>T |