HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190322145G>T , CM000665.2:g.190322145G>T | GRCh38 |
NC_000003.11:g.190039934G>T , CM000665.1:g.190039934G>T | GRCh37 |
NC_000003.10:g.191522628G>T | NCBI36 |
NG_021418.1:g.5302C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.62C>A (CLDN1) MANE Select | ENSP00000295522.3:p.Ala21Asp | |
ENST00000295522.3:c.62C>A (CLDN1) | ENSP00000295522.3:p.Ala21Asp | |
NM_021101.4:c.62C>A (CLDN1) | NP_066924.1:p.Ala21Asp | |
NM_021101.5:c.62C>A (CLDN1) MANE Select | NP_066924.1:p.Ala21Asp | |
NM_001378492.1:c.-279+7086G>T (CLDN16) | NP_001365421.1:n.-279+7086G>T | |
NM_001378493.1:c.-279+31554G>T (CLDN16) | NP_001365422.1:n.-279+31554G>T |