HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190310249C>G , CM000665.2:g.190310249C>G | GRCh38 |
NC_000003.11:g.190028038C>G , CM000665.1:g.190028038C>G | GRCh37 |
NC_000003.10:g.191510732C>G | NCBI36 |
NG_021418.1:g.17198G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.393G>C (CLDN1) MANE Select | ENSP00000295522.3:p.Leu131= | |
ENST00000295522.3:c.393G>C (CLDN1) | ENSP00000295522.3:p.Leu131= | |
ENST00000490800.1:n.352G>C (CLDN1) | ||
NM_021101.4:c.393G>C (CLDN1) | NP_066924.1:p.Leu131= | |
XR_001741069.1:n.203-4644C>G | ||
NM_021101.5:c.393G>C (CLDN1) MANE Select | NP_066924.1:p.Leu131= | |
NM_001378492.1:c.-445-4644C>G (CLDN16) | NP_001365421.1:n.-445-4644C>G | |
NM_001378493.1:c.-279+19658C>G (CLDN16) | NP_001365422.1:n.-279+19658C>G |