HGVS | Genome Assembly |
---|---|
NC_000022.11:g.29313043T>G , CM000684.2:g.29313043T>G | GRCh38 |
NC_000022.10:g.29709032T>G , CM000684.1:g.29709032T>G | GRCh37 |
NC_000022.9:g.28039032T>G | NCBI36 |
NG_032959.1:g.11037T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216101.7:c.*258A>C MANE Select | ENSP00000216101.6:n.*258A>C | |
ENST00000216101.6:c.*258A>C | ENSP00000216101.6:n.*258A>C | |
ENST00000401450.3:c.*816A>C | ENSP00000386095.3:n.*816A>C | |
NM_006477.4:c.*258A>C | NP_006468.1:n.*258A>C | |
XM_011529821.1:c.*258A>C | XP_011528123.1:n.*258A>C | |
XM_011529822.1:c.*258A>C | XP_011528124.1:n.*258A>C | |
XM_011529823.1:c.*258A>C | XP_011528125.1:n.*258A>C | |
NM_006477.5:c.*258A>C MANE Select | NP_006468.1:n.*258A>C |