HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135798207G>A , CM000664.2:g.135798207G>A | GRCh38 |
NC_000002.11:g.136555777G>A , CM000664.1:g.136555777G>A | GRCh37 |
NC_000002.10:g.136272247G>A | NCBI36 |
NG_008104.2:g.61963C>T , LRG_338:g.61963C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.4867-69C>T MANE Select | ENSP00000264162.2:n.4867-69C>T | |
ENST00000264162.6:c.4867-69C>T | ENSP00000264162.2:n.4867-69C>T | |
ENST00000452974.1:c.2960-69C>T | ENSP00000391231.1:n.2960-69C>T | |
NM_002299.2:c.4867-69C>T , LRG_338t1:c.4867-69C>T | NP_002290.2:n.4867-69C>T | |
NM_002299.3:c.4867-69C>T | NP_002290.2:n.4867-69C>T | |
XM_017004088.2:c.4867-69C>T | XP_016859577.1:n.4867-69C>T | |
NM_002299.4:c.4867-69C>T MANE Select | NP_002290.2:n.4867-69C>T |