HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1428290A>C , CM000667.2:g.1428290A>C | GRCh38 |
NC_000005.9:g.1428405A>C , CM000667.1:g.1428405A>C | GRCh37 |
NC_000005.8:g.1481405A>C | NCBI36 |
NG_015885.1:g.22139T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.653+4174T>G MANE Select | ENSP00000270349.9:n.653+4174T>G | |
ENST00000270349.11:c.653+4174T>G | ENSP00000270349.9:n.653+4174T>G | |
NM_001044.4:c.653+4174T>G | NP_001035.1:n.653+4174T>G | |
NM_001044.5:c.653+4174T>G MANE Select | NP_001035.1:n.653+4174T>G |