HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24658489C>A , CM000668.2:g.24658489C>A | GRCh38 |
NC_000006.11:g.24658717C>A , CM000668.1:g.24658717C>A | GRCh37 |
NC_000006.10:g.24766696C>A | NCBI36 |
NG_052787.1:g.13399G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378198.9:c.425+72G>T MANE Select | ENSP00000367440.4:n.425+72G>T | |
ENST00000341060.3:c.251+72G>T | ENSP00000345345.3:n.251+72G>T | |
ENST00000378198.8:c.425+72G>T | ENSP00000367440.4:n.425+72G>T | |
ENST00000478285.1:n.612+72G>T | ||
ENST00000478507.1:n.320-5336G>T | ||
NM_016614.2:c.425+72G>T | NP_057698.2:n.425+72G>T | |
XR_926244.1:n.552+72G>T | ||
NM_016614.3:c.425+72G>T MANE Select | NP_057698.2:n.425+72G>T |