HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1258639C>T , CM000667.2:g.1258639C>T | GRCh38 |
NC_000005.9:g.1258754C>T , CM000667.1:g.1258754C>T | GRCh37 |
NC_000005.8:g.1311754C>T | NCBI36 |
NG_009265.1:g.41409G>A , LRG_343:g.41409G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310581.10:c.2991G>A MANE Select | ENSP00000309572.5:p.Val997= | |
ENST00000656021.1:c.*2537G>A | ENSP00000499759.1:n.*2537G>A | |
ENST00000667927.1:n.279G>A | ||
ENST00000310581.9:c.2991G>A | ENSP00000309572.5:p.Val997= | |
ENST00000334602.10:c.2802G>A | ENSP00000334346.6:p.Val934= | |
ENST00000460137.6:c.2584G>A | ENSP00000425003.1:n.2584G>A | |
ENST00000484238.6:n.1433G>A | ||
NM_001193376.1:c.2802G>A | NP_001180305.1:p.Val934= | |
NM_198253.2:c.2991G>A , LRG_343t1:c.2991G>A | NP_937983.2:p.Val997= | |
XM_011514104.1:c.1461G>A | XP_011512406.1:p.Val487= | |
XM_011514105.1:c.1347G>A | XP_011512407.1:p.Val449= | |
XM_011514106.1:c.1347G>A | XP_011512408.1:p.Val449= | |
NR_149162.1:n.2678G>A | ||
NR_149163.1:n.2642G>A | ||
NM_001193376.2:c.2802G>A | NP_001180305.1:p.Val934= | |
NM_198253.3:c.2991G>A MANE Select | NP_937983.2:p.Val997= | |
NR_149162.2:n.2699G>A | ||
NR_149163.2:n.2663G>A | ||
NM_001193376.3:c.2802G>A | NP_001180305.1:p.Val934= | |
NR_149162.3:n.2699G>A | ||
NR_149163.3:n.2663G>A |