HGVS | Genome Assembly |
---|---|
NC_000005.10:g.44388356A>C , CM000667.2:g.44388356A>C | GRCh38 |
NC_000005.9:g.44388458A>C , CM000667.1:g.44388458A>C | GRCh37 |
NC_000005.8:g.44424215A>C | NCBI36 |
NG_011446.1:g.5327T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264664.5:c.325+2T>G MANE Select | ENSP00000264664.4:n.325+2T>G | |
ENST00000264664.4:c.325+2T>G | ENSP00000264664.4:n.325+2T>G | |
NM_004465.1:c.325+2T>G | NP_004456.1:n.325+2T>G | |
XM_005248264.2:c.325+2T>G | XP_005248321.1:n.325+2T>G | |
XM_005248264.4:c.325+2T>G | XP_005248321.1:n.325+2T>G | |
NM_004465.2:c.325+2T>G MANE Select | NP_004456.1:n.325+2T>G |