HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135800417G>T , CM000664.2:g.135800417G>T | GRCh38 |
NC_000002.11:g.136557987G>T , CM000664.1:g.136557987G>T | GRCh37 |
NC_000002.10:g.136274457G>T | NCBI36 |
NG_008104.2:g.59753C>A , LRG_338:g.59753C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.4866+190C>A MANE Select | ENSP00000264162.2:n.4866+190C>A | |
ENST00000264162.6:c.4866+190C>A | ENSP00000264162.2:n.4866+190C>A | |
ENST00000452974.1:c.2960-2279C>A | ENSP00000391231.1:n.2960-2279C>A | |
NM_002299.2:c.4866+190C>A , LRG_338t1:c.4866+190C>A | NP_002290.2:n.4866+190C>A | |
NM_002299.3:c.4866+190C>A | NP_002290.2:n.4866+190C>A | |
XM_017004088.2:c.4866+190C>A | XP_016859577.1:n.4866+190C>A | |
NM_002299.4:c.4866+190C>A MANE Select | NP_002290.2:n.4866+190C>A |