HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008249C>T , CM000666.2:g.88008249C>T | GRCh38 |
NC_000004.11:g.88929401C>T , CM000666.1:g.88929401C>T | GRCh37 |
NC_000004.10:g.89148425C>T | NCBI36 |
NG_008604.1:g.5582C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.516C>T MANE Select | ENSP00000237596.2:p.Asp172= | |
ENST00000237596.6:c.516C>T | ENSP00000237596.2:p.Asp172= | |
ENST00000506727.1:n.18C>T | ||
NM_000297.3:c.516C>T | NP_000288.1:p.Asp172= | |
XM_011532028.1:c.516C>T | XP_011530330.1:p.Asp172= | |
XR_244632.2:n.611C>T | ||
NR_156488.1:n.603C>T | ||
XM_011532028.2:c.516C>T | XP_011530330.1:p.Asp172= | |
NM_000297.4:c.516C>T MANE Select | NP_000288.1:p.Asp172= | |
NR_156488.2:n.615C>T |