HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192175C= , CM000671.2:g.137192175C= | GRCh38 |
NC_000009.11:g.140086627C= , CM000671.1:g.140086627C= | GRCh37 |
NC_000009.10:g.139206448C= | NCBI36 |
NG_027801.1:g.13537G= | |
NG_027801.2:g.17019G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.2074-1G= MANE Select | ENSP00000387100.4:n.2074-1G= | |
ENST00000333046.8:c.1551G= | ENSP00000327617.4:p.Gln517= | |
ENST00000409012.4:c.2074-1G= | ENSP00000387100.4:n.2074-1G= | |
ENST00000477345.1:n.2795-1G= | ||
NM_001128228.2:c.2074-1G= | NP_001121700.2:n.2074-1G= | |
NM_001128228.3:c.2074-1G= MANE Select | NP_001121700.2:n.2074-1G= |