HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190310255T>G , CM000665.2:g.190310255T>G | GRCh38 |
NC_000003.11:g.190028044T>G , CM000665.1:g.190028044T>G | GRCh37 |
NC_000003.10:g.191510738T>G | NCBI36 |
NG_021418.1:g.17192A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.389-2A>C (CLDN1) MANE Select | ENSP00000295522.3:n.389-2A>C | |
ENST00000295522.3:c.389-2A>C (CLDN1) | ENSP00000295522.3:n.389-2A>C | |
ENST00000490800.1:n.348-2A>C (CLDN1) | ||
NM_021101.4:c.389-2A>C (CLDN1) | NP_066924.1:n.389-2A>C | |
XR_001741069.1:n.203-4638T>G | ||
NM_021101.5:c.389-2A>C (CLDN1) MANE Select | NP_066924.1:n.389-2A>C | |
NM_001378492.1:c.-445-4638T>G (CLDN16) | NP_001365421.1:n.-445-4638T>G | |
NM_001378493.1:c.-279+19664T>G (CLDN16) | NP_001365422.1:n.-279+19664T>G |