HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39383433G>A , CM000665.2:g.39383433G>A | GRCh38 |
NC_000003.11:g.39424924G>A , CM000665.1:g.39424924G>A | GRCh37 |
NC_000003.10:g.39399928G>A | NCBI36 |
NG_016931.1:g.5110G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645630.1:c.-292G>A | ENSP00000493714.1:n.-292G>A | |
ENST00000648579.1:c.-292G>A | ENSP00000497638.1:n.-292G>A | |
ENST00000650617.1:c.-292G>A MANE Select | ENSP00000497532.1:n.-292G>A | |
ENST00000273158.8:c.-292G>A | ENSP00000273158.3:n.-292G>A | |
ENST00000431510.1:c.-332G>A | ENSP00000394244.1:n.-332G>A | |
NM_017875.2:c.-292G>A | NP_060345.2:n.-292G>A | |
XM_006713214.1:c.-332G>A | XP_006713277.1:n.-332G>A | |
XM_011533871.1:c.-292G>A | XP_011532173.1:n.-292G>A | |
NM_001354798.1:c.-292G>A | NP_001341727.1:n.-292G>A | |
NM_017875.4:c.-292G>A MANE Select | NP_060345.2:n.-292G>A | |
XM_006713214.2:c.-332G>A | XP_006713277.1:n.-332G>A | |
XR_002959626.1:n.236C>T | ||
XR_940747.3:n.236C>T | ||
NM_001354798.2:c.-292G>A | NP_001341727.1:n.-292G>A |