HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130724T>A , CM000668.2:g.18130724T>A | GRCh38 |
NC_000006.11:g.18130955T>A , CM000668.1:g.18130955T>A | GRCh37 |
NC_000006.10:g.18238934T>A | NCBI36 |
NG_012137.2:g.29420A>T | |
NG_012137.3:g.29420A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309983.5:c.682A>T MANE Select | ENSP00000312304.4:p.Lys228Ter | |
ENST00000309983.4:c.682A>T | ENSP00000312304.4:p.Lys228Ter | |
NM_000367.3:c.682A>T | NP_000358.1:p.Lys228Ter | |
XM_011514839.1:c.637A>T | XP_011513141.1:p.Lys213Ter | |
XM_011514840.1:c.613A>T | XP_011513142.1:p.Lys205Ter | |
NM_000367.4:c.682A>T | NP_000358.1:p.Lys228Ter | |
NM_001346817.1:c.682A>T | NP_001333746.1:p.Lys228Ter | |
NM_001346818.1:c.637A>T | NP_001333747.1:p.Lys213Ter | |
NM_000367.5:c.682A>T MANE Select | NP_000358.1:p.Lys228Ter |