HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74922951G>C , CM000679.2:g.74922951G>C | GRCh38 |
NC_000017.10:g.72919046G>C , CM000679.1:g.72919046G>C | GRCh37 |
NC_000017.9:g.70430641G>C | NCBI36 |
NG_007882.1:g.5306C>G | |
NG_033062.1:g.3677G>C | |
NG_007882.2:g.5313C>G | |
NG_033062.2:g.3677G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580223.2:c.-314G>C (OTOP2) | ENSP00000463837.2:n.-314G>C | |
ENST00000614341.5:c.123C>G (USH1G) MANE Select | ENSP00000480279.1:p.Tyr41Ter | |
ENST00000579243.1:c.123C>G (USH1G) | ENSP00000462568.1:p.Tyr41Ter | |
ENST00000614341.4:c.123C>G (USH1G) | ENSP00000480279.1:p.Tyr41Ter | |
NM_001282489.2:c.-134C>G (USH1G) | NP_001269418.1:n.-134C>G | |
NM_173477.4:c.123C>G (USH1G) | NP_775748.2:p.Tyr41Ter | |
NM_173477.5:c.123C>G (USH1G) MANE Select | NP_775748.2:p.Tyr41Ter | |
NM_001282489.3:c.-134C>G (USH1G) | NP_001269418.1:n.-134C>G |