HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190322189C>G , CM000665.2:g.190322189C>G | GRCh38 |
NC_000003.11:g.190039978C>G , CM000665.1:g.190039978C>G | GRCh37 |
NC_000003.10:g.191522672C>G | NCBI36 |
NG_021418.1:g.5258G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295522.4:c.18G>C (CLDN1) MANE Select | ENSP00000295522.3:p.Leu6= | |
ENST00000295522.3:c.18G>C (CLDN1) | ENSP00000295522.3:p.Leu6= | |
NM_021101.4:c.18G>C (CLDN1) | NP_066924.1:p.Leu6= | |
NM_021101.5:c.18G>C (CLDN1) MANE Select | NP_066924.1:p.Leu6= | |
NM_001378492.1:c.-279+7130C>G (CLDN16) | NP_001365421.1:n.-279+7130C>G | |
NM_001378493.1:c.-279+31598C>G (CLDN16) | NP_001365422.1:n.-279+31598C>G |