HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135851103C>T , CM000664.2:g.135851103C>T | GRCh38 |
NC_000002.11:g.136608673C>T , CM000664.1:g.136608673C>T | GRCh37 |
NC_000002.10:g.136325143C>T | NCBI36 |
NG_008104.2:g.9067G>A , LRG_338:g.9067G>A | |
NG_008958.1:g.30339G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1917+299G>A MANE Select | ENSP00000264156.2:n.1917+299G>A | |
ENST00000264156.2:c.1917+299G>A | ENSP00000264156.2:n.1917+299G>A | |
ENST00000483902.1:n.544+299G>A | ||
ENST00000492091.1:n.343+299G>A | ||
NM_005915.5:c.1917+299G>A | NP_005906.2:n.1917+299G>A | |
NM_005915.6:c.1917+299G>A MANE Select | NP_005906.2:n.1917+299G>A |