HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353367G>C , CM000674.2:g.69353367G>C | GRCh38 |
NC_000012.11:g.69747147G>C , CM000674.1:g.69747147G>C | GRCh37 |
NC_000012.10:g.68033414G>C | NCBI36 |
NG_008195.1:g.10014G>C , LRG_768:g.10014G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*148G>C MANE Select | ENSP00000261267.2:n.*148G>C | |
ENST00000261267.6:c.*148G>C | ENSP00000261267.2:n.*148G>C | |
ENST00000549690.1:c.*102G>C | ENSP00000449898.1:n.*102G>C | |
NM_000239.2:c.*148G>C , LRG_768t1:c.*148G>C | NP_000230.1:n.*148G>C | |
NM_000239.3:c.*148G>C MANE Select | NP_000230.1:n.*148G>C |