HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40928252T>C , CM000679.2:g.40928252T>C | GRCh38 |
NC_000017.10:g.39084504T>C , CM000679.1:g.39084504T>C | GRCh37 |
NC_000017.9:g.36338030T>C | NCBI36 |
NG_012287.1:g.14333A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000209718.8:c.907A>G MANE Select | ENSP00000209718.3:p.Thr303Ala | |
ENST00000209718.7:c.907A>G | ENSP00000209718.3:p.Thr303Ala | |
ENST00000436344.7:c.496A>G | ENSP00000414056.3:p.Thr166Ala | |
ENST00000462312.5:c.*225A>G | ENSP00000462335.1:n.*225A>G | |
ENST00000494691.5:c.*225A>G | ENSP00000464548.1:n.*225A>G | |
ENST00000582754.5:n.1139A>G | ||
NM_001282433.1:c.496A>G | NP_001269362.1:p.Thr166Ala | |
NM_015515.4:c.907A>G | NP_056330.3:p.Thr303Ala | |
XM_005257200.3:c.496A>G | XP_005257257.1:p.Thr166Ala | |
XM_011524595.1:c.496A>G | XP_011522897.1:p.Thr166Ala | |
XM_005257200.5:c.496A>G | XP_005257257.1:p.Thr166Ala | |
XM_011524595.2:c.496A>G | XP_011522897.1:p.Thr166Ala | |
NM_001282433.2:c.496A>G | NP_001269362.1:p.Thr166Ala | |
NM_015515.5:c.907A>G MANE Select | NP_056330.3:p.Thr303Ala |