HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20138592C>T , CM000675.2:g.20138592C>T | GRCh38 |
NC_000013.10:g.20712731C>T , CM000675.1:g.20712731C>T | GRCh37 |
NC_000013.9:g.19610731C>T | NCBI36 |
NG_016399.1:g.27453G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241125.4:c.*3389G>A MANE Select | ENSP00000241125.3:n.*3389G>A | |
ENST00000241125.3:c.*3389G>A | ENSP00000241125.3:n.*3389G>A | |
NM_021954.3:c.*3389G>A | NP_068773.2:n.*3389G>A | |
XM_005266353.1:c.*3389G>A | XP_005266410.1:n.*3389G>A | |
XM_011535048.1:c.*3389G>A | XP_011533350.1:n.*3389G>A | |
XM_011535048.2:c.*3389G>A | XP_011533350.1:n.*3389G>A | |
NM_021954.4:c.*3389G>A MANE Select | NP_068773.2:n.*3389G>A |