HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60648677C>T , CM000676.2:g.60648677C>T | GRCh38 |
NC_000014.8:g.61115395C>T , CM000676.1:g.61115395C>T | GRCh37 |
NC_000014.7:g.60185148C>T | NCBI36 |
NG_008231.1:g.5761G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645694.3:c.513G>A (SIX1) MANE Select | ENSP00000494686.1:p.Trp171Ter | |
ENST00000247182.6:c.513G>A (SIX1) | ENSP00000247182.5:p.Trp171Ter | |
ENST00000553535.2:n.249-2100G>A (SIX1) | ||
ENST00000554986.2:c.42-2100G>A (SIX1) | ENSP00000452700.2:n.42-2100G>A | |
ENST00000555955.3:n.1198-2100G>A (SIX1) | ||
NM_005982.3:c.513G>A (SIX1) | NP_005973.1:p.Trp171Ter | |
XM_017021602.2:c.501+12G>A (SIX1) | XP_016877091.1:n.501+12G>A | |
NM_005982.4:c.513G>A (SIX1) MANE Select | NP_005973.1:p.Trp171Ter | |
NR_162089.1:n.30C>T (MIR9718) |