HGVS | Genome Assembly |
---|---|
NC_000002.12:g.20005745A>G , CM000664.2:g.20005745A>G | GRCh38 |
NC_000002.11:g.20205506A>G , CM000664.1:g.20205506A>G | GRCh37 |
NC_000002.10:g.20068987A>G | NCBI36 |
NG_008087.1:g.11950T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407540.8:c.789T>C MANE Select | ENSP00000383894.3:p.Cys263= | |
ENST00000407540.7:c.789T>C | ENSP00000383894.3:p.Cys263= | |
ENST00000421259.2:c.789T>C | ENSP00000398753.2:p.Cys263= | |
NM_002381.4:c.789T>C | NP_002372.1:p.Cys263= | |
NM_002381.5:c.789T>C MANE Select | NP_002372.1:p.Cys263= |