HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1423766T>C , CM000667.2:g.1423766T>C | GRCh38 |
NC_000005.9:g.1423881T>C , CM000667.1:g.1423881T>C | GRCh37 |
NC_000005.8:g.1476881T>C | NCBI36 |
NG_015885.1:g.26663A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270349.12:c.654-1752A>G MANE Select | ENSP00000270349.9:n.654-1752A>G | |
ENST00000270349.11:c.654-1752A>G | ENSP00000270349.9:n.654-1752A>G | |
NM_001044.4:c.654-1752A>G | NP_001035.1:n.654-1752A>G | |
NM_001044.5:c.654-1752A>G MANE Select | NP_001035.1:n.654-1752A>G |