HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135851198T>A , CM000664.2:g.135851198T>A | GRCh38 |
NC_000002.11:g.136608768T>A , CM000664.1:g.136608768T>A | GRCh37 |
NC_000002.10:g.136325238T>A | NCBI36 |
NG_008104.2:g.8972A>T , LRG_338:g.8972A>T | |
NG_008958.1:g.30244A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1917+204A>T MANE Select | ENSP00000264156.2:n.1917+204A>T | |
ENST00000264156.2:c.1917+204A>T | ENSP00000264156.2:n.1917+204A>T | |
ENST00000483902.1:n.544+204A>T | ||
ENST00000492091.1:n.343+204A>T | ||
NM_005915.5:c.1917+204A>T | NP_005906.2:n.1917+204A>T | |
NM_005915.6:c.1917+204A>T MANE Select | NP_005906.2:n.1917+204A>T |