HGVS | Genome Assembly |
---|---|
NC_000004.12:g.46927672C>A , CM000666.2:g.46927672C>A | GRCh38 |
NC_000004.11:g.46929689C>A , CM000666.1:g.46929689C>A | GRCh37 |
NC_000004.10:g.46624446C>A | NCBI36 |
NG_011809.1:g.70892G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264318.4:c.*553G>T MANE Select | ENSP00000264318.3:n.*553G>T | |
ENST00000264318.3:c.*553G>T | ENSP00000264318.3:n.*553G>T | |
NM_000809.3:c.*553G>T | NP_000800.2:n.*553G>T | |
NM_001204266.1:c.*553G>T | NP_001191195.1:n.*553G>T | |
NM_001204267.1:c.*553G>T | NP_001191196.1:n.*553G>T | |
XM_011513677.1:c.*553G>T | XP_011511979.1:n.*553G>T | |
NM_000809.4:c.*553G>T MANE Select | NP_000800.2:n.*553G>T | |
NM_001204266.2:c.*553G>T | NP_001191195.1:n.*553G>T | |
NM_001204267.2:c.*553G>T | NP_001191196.1:n.*553G>T |