HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134375426G>C , CM000671.2:g.134375426G>C | GRCh38 |
NC_000009.11:g.137267272G>C , CM000671.1:g.137267272G>C | GRCh37 |
NC_000009.10:g.136407093G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.29-26206G>C MANE Select | ENSP00000419692.1:n.29-26206G>C | |
ENST00000356384.4:n.293+1296G>C | ||
ENST00000481739.1:c.29-26206G>C | ENSP00000419692.1:n.29-26206G>C | |
ENST00000484822.1:n.453-26206G>C | ||
NM_002957.5:c.29-26206G>C | NP_002948.1:n.29-26206G>C | |
NM_002957.6:c.29-26206G>C MANE Select | NP_002948.1:n.29-26206G>C |