HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147485842G>T , CM000669.2:g.147485842G>T | GRCh38 |
NC_000007.13:g.147182934G>T , CM000669.1:g.147182934G>T | GRCh37 |
NC_000007.12:g.146813867G>T | NCBI36 |
NG_007092.2:g.1374482G>T | |
NG_007092.3:g.1374842G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.1671-93G>T MANE Select | ENSP00000354778.3:n.1671-93G>T | |
ENST00000636870.1:n.1533-93G>T | ||
ENST00000637694.1:n.1574-93G>T | ||
ENST00000637825.1:n.1154-93G>T | ||
ENST00000638117.1:n.1574-93G>T | ||
ENST00000361727.7:c.1671-93G>T | ENSP00000354778.3:n.1671-93G>T | |
NM_014141.5:c.1671-93G>T | NP_054860.1:n.1671-93G>T | |
XM_006715919.1:c.159-93G>T | XP_006715982.1:n.159-93G>T | |
XM_017011950.2:c.1671-93G>T | XP_016867439.1:n.1671-93G>T | |
NM_014141.6:c.1671-93G>T MANE Select | NP_054860.1:n.1671-93G>T |