HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159204893T>C , CM000663.2:g.159204893T>C | GRCh38 |
NC_000001.10:g.159174683T>C , CM000663.1:g.159174683T>C | GRCh37 |
NC_000001.9:g.157441307T>C | NCBI36 |
NG_011626.1:g.5174T>C | |
NG_011626.3:g.5881T>C | |
NG_051933.1:g.38330T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368121.6:c.-111T>C | ENSP00000357103.2:n.-111T>C | |
ENST00000368122.4:c.-67T>C MANE Select | ENSP00000357104.1:n.-67T>C | |
ENST00000368122.2:c.-67T>C | ENSP00000357104.1:n.-67T>C | |
ENST00000537147.5:c.-67T>C | ENSP00000441985.1:n.-67T>C | |
NM_002036.3:c.-67T>C | NP_002027.2:n.-67T>C | |
NM_002036.4:c.-67T>C MANE Select | NP_002027.2:n.-67T>C | |
NM_001122951.3:c.-111T>C | NP_001116423.1:n.-111T>C |