HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748588T>C , CM000669.2:g.21748588T>C | GRCh38 |
NC_000007.13:g.21788206T>C , CM000669.1:g.21788206T>C | GRCh37 |
NC_000007.12:g.21754731T>C | NCBI36 |
NG_012886.2:g.210374T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8519T>C MANE Select | ENSP00000475939.1:p.Ile2840Thr | |
ENST00000328843.10:c.8540T>C | ENSP00000330671.7:p.Ile2847Thr | |
ENST00000409508.7:c.8519T>C | ENSP00000475939.1:p.Ile2840Thr | |
ENST00000620169.4:c.8540T>C | ENSP00000481693.1:p.Ile2847Thr | |
NM_001277115.1:c.8519T>C | NP_001264044.1:p.Ile2840Thr | |
NM_001277115.2:c.8519T>C MANE Select | NP_001264044.1:p.Ile2840Thr |