HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6415626C>A , CM000663.2:g.6415626C>A | GRCh38 |
NC_000001.10:g.6475686C>A , CM000663.1:g.6475686C>A | GRCh37 |
NC_000001.9:g.6398273C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377834.8:c.*3247G>T MANE Select | ENSP00000367065.4:n.*3247G>T | |
ENST00000377836.8:c.142-2344G>T | ENSP00000367067.4:n.142-2344G>T | |
ENST00000377837.5:c.142-2344G>T | ENSP00000367068.1:n.142-2344G>T | |
ENST00000471190.1:n.116+890G>T | ||
NM_019089.4:c.*3247G>T | NP_061962.2:n.*3247G>T | |
XM_011541612.1:c.*3247G>T | XP_011539914.1:n.*3247G>T | |
XM_011541613.1:c.*3247G>T | XP_011539915.1:n.*3247G>T | |
NM_019089.5:c.*3247G>T MANE Select | NP_061962.2:n.*3247G>T |