HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64197185C>T , CM000673.2:g.64197185C>T | GRCh38 |
NC_000011.9:g.63964657C>T , CM000673.1:g.63964657C>T | GRCh37 |
NC_000011.8:g.63721233C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305218.9:c.673-86C>T MANE Select | ENSP00000305958.5:n.673-86C>T | |
ENST00000305218.8:c.673-86C>T | ENSP00000305958.4:n.673-86C>T | |
ENST00000358794.9:c.814-86C>T | ENSP00000351646.5:n.814-86C>T | |
ENST00000536973.5:c.361+2855C>T | ENSP00000441036.1:n.361+2855C>T | |
ENST00000537479.5:n.181+9C>T | ||
ENST00000538945.5:c.601-86C>T | ENSP00000445957.1:n.601-86C>T | |
ENST00000544739.5:n.212-86C>T | ||
NM_001282652.1:c.814-86C>T | NP_001269581.1:n.814-86C>T | |
NM_001282653.1:c.601-86C>T | NP_001269582.1:n.601-86C>T | |
NM_006819.2:c.673-86C>T | NP_006810.1:n.673-86C>T | |
NM_001282653.2:c.601-86C>T | NP_001269582.1:n.601-86C>T | |
NM_006819.3:c.673-86C>T MANE Select | NP_006810.1:n.673-86C>T | |
NM_001282652.2:c.814-86C>T | NP_001269581.1:n.814-86C>T |