HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845647A>T , CM000672.2:g.99845647A>T | GRCh38 |
NC_000010.10:g.101605404A>T , CM000672.1:g.101605404A>T | GRCh37 |
NC_000010.9:g.101595394A>T | NCBI36 |
NG_011798.1:g.67942A>T | |
NG_011798.2:g.68050A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.4011A>T MANE Select | ENSP00000497274.1:p.Gly1337= | |
ENST00000649459.1:n.359A>T | ||
ENST00000370449.8:c.4011A>T | ENSP00000359478.4:p.Gly1337= | |
NM_000392.4:c.4011A>T | NP_000383.1:p.Gly1337= | |
XM_006717630.2:c.3315A>T | XP_006717693.1:p.Gly1105= | |
XR_945604.1:n.4177-36A>T | ||
XR_945605.1:n.4075A>T | ||
NM_000392.5:c.4011A>T MANE Select | NP_000383.2:p.Gly1337= | |
XM_006717630.3:c.3315A>T | XP_006717693.1:p.Gly1105= | |
XR_945604.3:n.4231-36A>T | ||
XR_945605.3:n.4127A>T |