HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022484T>G , CM000685.2:g.155022484T>G | GRCh38 |
NC_000023.10:g.154250759T>G , CM000685.1:g.154250759T>G | GRCh37 |
NC_000023.9:g.153903953T>G | NCBI36 |
NG_011403.1:g.5240A>C | |
NG_011403.2:g.5240A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.69A>C MANE Select | ENSP00000353393.4:p.Arg23Ser | |
ENST00000647125.1:c.69A>C | ENSP00000496062.1:p.Arg23Ser | |
ENST00000360256.8:c.69A>C | ENSP00000353393.4:p.Arg23Ser | |
ENST00000423959.5:c.38+4296A>C | ENSP00000409446.1:n.38+4296A>C | |
ENST00000453950.1:c.51A>C | ENSP00000389153.1:p.Arg17Ser | |
NM_000132.3:c.69A>C | NP_000123.1:p.Arg23Ser | |
XM_011531126.1:c.38+4296A>C | XP_011529428.1:n.38+4296A>C | |
NM_000132.4:c.69A>C MANE Select | NP_000123.1:p.Arg23Ser |