HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66250254G>C , CM000674.2:g.66250254G>C | GRCh38 |
NC_000012.11:g.66644034G>C , CM000674.1:g.66644034G>C | GRCh37 |
NC_000012.10:g.64930301G>C | NCBI36 |
NG_021194.1:g.66057G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261233.9:c.*2083G>C MANE Select | ENSP00000261233.4:n.*2083G>C | |
ENST00000261233.8:c.*2083G>C | ENSP00000261233.4:n.*2083G>C | |
NM_001142523.1:c.*2083G>C | NP_001135995.1:n.*2083G>C | |
NM_007199.2:c.*2083G>C | NP_009130.2:n.*2083G>C | |
NM_001142523.2:c.*2083G>C | NP_001135995.1:n.*2083G>C | |
NM_007199.3:c.*2083G>C MANE Select | NP_009130.2:n.*2083G>C |