HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1401357C>G , CM000681.2:g.1401357C>G | GRCh38 |
NC_000019.9:g.1401356C>G , CM000681.1:g.1401356C>G | GRCh37 |
NC_000019.8:g.1352356C>G | NCBI36 |
NG_009785.1:g.5197G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252288.8:c.120G>C MANE Select | ENSP00000252288.1:p.Pro40= | |
ENST00000447102.8:c.120G>C | ENSP00000403536.2:p.Pro40= | |
ENST00000640762.1:c.112+8G>C | ENSP00000492031.1:n.112+8G>C | |
ENST00000252288.6:c.120G>C | ENSP00000252288.1:p.Pro40= | |
ENST00000447102.7:c.120G>C | ENSP00000403536.2:p.Pro40= | |
NM_000156.5:c.120G>C | NP_000147.1:p.Pro40= | |
NM_138924.2:c.120G>C | NP_620279.1:p.Pro40= | |
NM_000156.6:c.120G>C MANE Select | NP_000147.1:p.Pro40= | |
NM_138924.3:c.120G>C | NP_620279.1:p.Pro40= |