HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789607G>T , CM000664.2:g.135789607G>T | GRCh38 |
NC_000002.11:g.136547177G>T , CM000664.1:g.136547177G>T | GRCh37 |
NC_000002.10:g.136263647G>T | NCBI36 |
NG_008104.2:g.70563C>A , LRG_338:g.70563C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5527C>A MANE Select | ENSP00000264162.2:p.Pro1843Thr | |
ENST00000264162.6:c.5527C>A | ENSP00000264162.2:p.Pro1843Thr | |
NM_002299.2:c.5527C>A , LRG_338t1:c.5527C>A | NP_002290.2:p.Pro1843Thr | |
NM_002299.3:c.5527C>A | NP_002290.2:p.Pro1843Thr | |
NM_002299.4:c.5527C>A MANE Select | NP_002290.2:p.Pro1843Thr |