HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38071315T>C , CM000664.2:g.38071315T>C | GRCh38 |
NC_000002.11:g.38298458T>C , CM000664.1:g.38298458T>C | GRCh37 |
NC_000002.10:g.38151962T>C | NCBI36 |
NG_008386.2:g.9787A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.1044-5A>G | ENSP00000478839.2:n.1044-5A>G | |
ENST00000610745.5:c.1044-5A>G MANE Select | ENSP00000478561.1:n.1044-5A>G | |
ENST00000492443.1:n.422-5A>G | ||
ENST00000494864.1:c.-70-5A>G | ENSP00000479876.1:n.-70-5A>G | |
ENST00000610745.4:c.1044-5A>G | ENSP00000478561.1:n.1044-5A>G | |
ENST00000613082.1:n.439-5A>G | ||
ENST00000614273.1:c.1044-5A>G | ENSP00000483678.1:n.1044-5A>G | |
NM_000104.3:c.1044-5A>G | NP_000095.2:n.1044-5A>G | |
NM_000104.4:c.1044-5A>G MANE Select | NP_000095.2:n.1044-5A>G |