HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539710G>C , CM000663.2:g.100539710G>C | GRCh38 |
NC_000001.10:g.101005266G>C , CM000663.1:g.101005266G>C | GRCh37 |
NC_000001.9:g.100777854G>C | NCBI36 |
NG_053134.1:g.6539G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.744G>C MANE Select | ENSP00000314223.4:p.Pro248= | |
ENST00000315033.4:c.744G>C | ENSP00000314223.4:p.Pro248= | |
NM_022049.2:c.744G>C | NP_071332.2:p.Pro248= | |
NM_022049.3:c.744G>C MANE Select | NP_071332.2:p.Pro248= |