HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24658460G>T , CM000668.2:g.24658460G>T | GRCh38 |
NC_000006.11:g.24658688G>T , CM000668.1:g.24658688G>T | GRCh37 |
NC_000006.10:g.24766667G>T | NCBI36 |
NG_052787.1:g.13428C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378198.9:c.425+101C>A MANE Select | ENSP00000367440.4:n.425+101C>A | |
ENST00000341060.3:c.251+101C>A | ENSP00000345345.3:n.251+101C>A | |
ENST00000378198.8:c.425+101C>A | ENSP00000367440.4:n.425+101C>A | |
ENST00000478285.1:n.612+101C>A | ||
ENST00000478507.1:n.320-5307C>A | ||
NM_016614.2:c.425+101C>A | NP_057698.2:n.425+101C>A | |
XR_926244.1:n.552+101C>A | ||
NM_016614.3:c.425+101C>A MANE Select | NP_057698.2:n.425+101C>A |