HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202518736T>A , CM000664.2:g.202518736T>A | GRCh38 |
NC_000002.11:g.203383459T>A , CM000664.1:g.203383459T>A | GRCh37 |
NC_000002.10:g.203091704T>A | NCBI36 |
NG_009363.1:g.147410T>A , LRG_712:g.147410T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.622-86T>A MANE Select | ENSP00000363708.4:n.622-86T>A | |
ENST00000638587.1:c.553-86T>A | ENSP00000491062.1:n.553-86T>A | |
ENST00000374574.2:c.622-86T>A | ENSP00000363702.2:n.622-86T>A | |
ENST00000374580.8:c.622-86T>A | ENSP00000363708.4:n.622-86T>A | |
NM_001204.6:c.622-86T>A , LRG_712t1:c.622-86T>A | NP_001195.2:n.622-86T>A | |
XM_011511687.1:c.622-86T>A | XP_011509989.1:n.622-86T>A | |
XM_011511688.1:c.622-86T>A | XP_011509990.1:n.622-86T>A | |
NM_001204.7:c.622-86T>A MANE Select | NP_001195.2:n.622-86T>A |