HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192184A= , CM000671.2:g.137192184A= | GRCh38 |
NC_000009.11:g.140086636A= , CM000671.1:g.140086636A= | GRCh37 |
NC_000009.10:g.139206457A= | NCBI36 |
NG_027801.1:g.13528T= | |
NG_027801.2:g.17010T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2074-10T= MANE Select | ENSP00000387100.4:n.2074-10T= | |
ENST00000333046.8:c.1542T= | ENSP00000327617.4:p.Ser514= | |
ENST00000409012.4:c.2074-10T= | ENSP00000387100.4:n.2074-10T= | |
ENST00000477345.1:n.2795-10T= | ||
NM_001128228.2:c.2074-10T= | NP_001121700.2:n.2074-10T= | |
NM_001128228.3:c.2074-10T= MANE Select | NP_001121700.2:n.2074-10T= |