HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42404553T>G , CM000679.2:g.42404553T>G | GRCh38 |
NC_000017.10:g.40556571T>G , CM000679.1:g.40556571T>G | GRCh37 |
NC_000017.9:g.37810097T>G | NCBI36 |
NG_015845.1:g.23768A>C | |
NG_015845.2:g.23768A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357037.6:c.*134A>C MANE Select | ENSP00000349541.4:n.*134A>C | |
ENST00000357037.5:c.*134A>C | ENSP00000349541.4:n.*134A>C | |
NM_012232.5:c.*134A>C | NP_036364.2:n.*134A>C | |
NM_012232.6:c.*134A>C MANE Select | NP_036364.2:n.*134A>C |