HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442381A>C , CM000666.2:g.177442381A>C | GRCh38 |
NC_000004.11:g.178363535A>C , CM000666.1:g.178363535A>C | GRCh37 |
NC_000004.10:g.178600529A>C | NCBI36 |
NG_011845.2:g.5123T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.-6T>G MANE Select | ENSP00000264595.2:n.-6T>G | |
ENST00000264595.6:c.-6T>G | ENSP00000264595.2:n.-6T>G | |
ENST00000506853.5:n.29T>G | ||
ENST00000510955.5:n.29T>G | ||
ENST00000511231.1:n.29T>G | ||
NM_000027.3:c.-6T>G | NP_000018.2:n.-6T>G | |
NM_001171988.1:c.-6T>G | NP_001165459.1:n.-6T>G | |
NR_033655.1:n.123T>G | ||
XM_006714123.2:c.-6T>G | XP_006714186.1:n.-6T>G | |
XR_001741155.2:n.89T>G | ||
NM_000027.4:c.-6T>G MANE Select | NP_000018.2:n.-6T>G | |
NM_001171988.2:c.-6T>G | NP_001165459.1:n.-6T>G | |
NR_033655.2:n.57T>G |