HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75985793G>T , CM000676.2:g.75985793G>T | GRCh38 |
NC_000014.8:g.76452136G>T , CM000676.1:g.76452136G>T | GRCh37 |
NC_000014.7:g.75521889G>T | NCBI36 |
NG_011715.1:g.957C>A , LRG_399:g.957C>A | |
NG_031957.1:g.5041G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314067.11:c.7G>T MANE Select | ENSP00000324177.6:p.Asp3Tyr | |
ENST00000679083.1:c.-240G>T | ENSP00000504736.1:n.-240G>T | |
ENST00000238628.10:c.7G>T | ENSP00000238628.6:p.Asp3Tyr | |
ENST00000314067.10:c.7G>T | ENSP00000324177.6:p.Asp3Tyr | |
ENST00000542766.5:c.7G>T | ENSP00000440064.1:p.Asp3Tyr | |
ENST00000554026.5:n.14G>T | ||
ENST00000555305.5:n.14G>T | ||
ENST00000555370.5:c.7G>T | ENSP00000452051.1:p.Asp3Tyr | |
ENST00000555677.5:n.90-3092G>T | ||
ENST00000556742.1:c.7G>T | ENSP00000451096.1:p.Asp3Tyr | |
NM_001102564.1:c.7G>T | NP_001096034.1:p.Asp3Tyr | |
NM_001255995.1:c.7G>T | NP_001242924.1:p.Asp3Tyr | |
NM_052873.2:c.7G>T | NP_443105.2:p.Asp3Tyr | |
NR_045664.1:n.41G>T | ||
NR_045665.1:n.41G>T | ||
NM_001102564.2:c.7G>T | NP_001096034.1:p.Asp3Tyr | |
NM_001255995.2:c.7G>T | NP_001242924.1:p.Asp3Tyr | |
NM_052873.3:c.7G>T | NP_443105.2:p.Asp3Tyr | |
NM_001102564.3:c.7G>T MANE Select | NP_001096034.1:p.Asp3Tyr | |
NM_001255995.3:c.7G>T | NP_001242924.1:p.Asp3Tyr | |
NR_045664.2:n.31G>T | ||
NR_045665.2:n.31G>T |