HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232544561G>A , CM000664.2:g.232544561G>A | GRCh38 |
NC_000002.11:g.233409271G>A , CM000664.1:g.233409271G>A | GRCh37 |
NC_000002.10:g.233117515G>A | NCBI36 |
NG_012954.1:g.9835G>A | |
NG_012954.2:g.9870G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000408957.7:c.*3546C>T (TIGD1) MANE Select | ENSP00000386186.3:n.*3546C>T | |
ENST00000651502.1:c.1230G>A (CHRNG) MANE Select | ENSP00000498757.1:p.Ala410= | |
ENST00000389492.3:c.1074G>A (CHRNG) | ENSP00000374143.3:p.Ala358= | |
ENST00000389494.7:c.1230G>A (CHRNG) | ENSP00000374145.3:p.Ala410= | |
NM_005199.4:c.1230G>A (CHRNG) | NP_005190.4:p.Ala410= | |
NM_005199.5:c.1230G>A (CHRNG) MANE Select | NP_005190.4:p.Ala410= | |
NM_145702.4:c.*3546C>T (TIGD1) MANE Select | NP_663748.1:n.*3546C>T |