HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107917404T>C , CM000669.2:g.107917404T>C | GRCh38 |
NC_000007.13:g.107557849T>C , CM000669.1:g.107557849T>C | GRCh37 |
NC_000007.12:g.107345085T>C | NCBI36 |
NG_008045.1:g.31264T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205402.10:c.1178T>C MANE Select | ENSP00000205402.3:p.Ile393Thr | |
ENST00000205402.9:c.1178T>C | ENSP00000205402.3:p.Ile393Thr | |
ENST00000415325.5:c.*852T>C | ENSP00000402593.1:n.*852T>C | |
ENST00000417551.5:c.1178T>C | ENSP00000390667.1:p.Ile393Thr | |
ENST00000437604.6:c.1034T>C | ENSP00000387542.2:p.Ile345Thr | |
ENST00000440410.5:c.1109T>C | ENSP00000417016.1:p.Ile370Thr | |
NM_000108.4:c.1178T>C | NP_000099.2:p.Ile393Thr | |
NM_001289750.1:c.881T>C | NP_001276679.1:p.Ile294Thr | |
NM_001289751.1:c.1109T>C | NP_001276680.1:p.Ile370Thr | |
NM_001289752.1:c.1034T>C | NP_001276681.1:p.Ile345Thr | |
NM_000108.5:c.1178T>C MANE Select | NP_000099.2:p.Ile393Thr |