HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74922950G>A , CM000679.2:g.74922950G>A | GRCh38 |
NC_000017.10:g.72919045G>A , CM000679.1:g.72919045G>A | GRCh37 |
NC_000017.9:g.70430640G>A | NCBI36 |
NG_007882.1:g.5307C>T | |
NG_033062.1:g.3676G>A | |
NG_007882.2:g.5314C>T | |
NG_033062.2:g.3676G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580223.2:c.-315G>A (OTOP2) | ENSP00000463837.2:n.-315G>A | |
ENST00000614341.5:c.124C>T (USH1G) MANE Select | ENSP00000480279.1:p.His42Tyr | |
ENST00000579243.1:c.124C>T (USH1G) | ENSP00000462568.1:p.His42Tyr | |
ENST00000614341.4:c.124C>T (USH1G) | ENSP00000480279.1:p.His42Tyr | |
NM_001282489.2:c.-133C>T (USH1G) | NP_001269418.1:n.-133C>T | |
NM_173477.4:c.124C>T (USH1G) | NP_775748.2:p.His42Tyr | |
NM_173477.5:c.124C>T (USH1G) MANE Select | NP_775748.2:p.His42Tyr | |
NM_001282489.3:c.-133C>T (USH1G) | NP_001269418.1:n.-133C>T |