HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787609C>G , CM000681.2:g.18787609C>G | GRCh38 |
NC_000019.9:g.18898418C>G , CM000681.1:g.18898418C>G | GRCh37 |
NC_000019.8:g.18759418C>G | NCBI36 |
NG_007070.1:g.8697G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1017G>C MANE Select | ENSP00000222271.2:p.Thr339= | |
ENST00000222271.6:c.1017G>C | ENSP00000222271.2:p.Thr339= | |
ENST00000425807.1:c.858G>C | ENSP00000403792.1:p.Thr286= | |
ENST00000542601.6:c.918G>C | ENSP00000439156.2:p.Thr306= | |
NM_000095.2:c.1017G>C | NP_000086.2:p.Thr339= | |
NM_000095.3:c.1017G>C MANE Select | NP_000086.2:p.Thr339= |