HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190322131C>T , CM000665.2:g.190322131C>T | GRCh38 |
NC_000003.11:g.190039920C>T , CM000665.1:g.190039920C>T | GRCh37 |
NC_000003.10:g.191522614C>T | NCBI36 |
NG_021418.1:g.5316G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.76G>A (CLDN1) MANE Select | ENSP00000295522.3:p.Ala26Thr | |
ENST00000295522.3:c.76G>A (CLDN1) | ENSP00000295522.3:p.Ala26Thr | |
NM_021101.4:c.76G>A (CLDN1) | NP_066924.1:p.Ala26Thr | |
NM_021101.5:c.76G>A (CLDN1) MANE Select | NP_066924.1:p.Ala26Thr | |
NM_001378492.1:c.-279+7072C>T (CLDN16) | NP_001365421.1:n.-279+7072C>T | |
NM_001378493.1:c.-279+31540C>T (CLDN16) | NP_001365422.1:n.-279+31540C>T |