HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192218G>A , CM000671.2:g.137192218G>A | GRCh38 |
NC_000009.11:g.140086670G>A , CM000671.1:g.140086670G>A | GRCh37 |
NC_000009.10:g.139206491G>A | NCBI36 |
NG_027801.1:g.13494C>T | |
NG_027801.2:g.16976C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2073+41C>T MANE Select | ENSP00000387100.4:n.2073+41C>T | |
ENST00000333046.8:c.1508C>T | ENSP00000327617.4:p.Thr503Ile | |
ENST00000409012.4:c.2073+41C>T | ENSP00000387100.4:n.2073+41C>T | |
ENST00000477345.1:n.2794+41C>T | ||
NM_001128228.2:c.2073+41C>T | NP_001121700.2:n.2073+41C>T | |
NM_001128228.3:c.2073+41C>T MANE Select | NP_001121700.2:n.2073+41C>T |