HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14741763T>G , CM000667.2:g.14741763T>G | GRCh38 |
NC_000005.9:g.14741872T>G , CM000667.1:g.14741872T>G | GRCh37 |
NC_000005.8:g.14794872T>G | NCBI36 |
NG_008273.1:g.135016A>C | |
NG_008273.2:g.135023A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.1011+64A>C MANE Select | ENSP00000284268.6:n.1011+64A>C | |
ENST00000284268.6:c.1011+64A>C | ENSP00000284268.6:n.1011+64A>C | |
ENST00000503939.5:n.523+64A>C | ||
ENST00000515517.1:n.309A>C | ||
NM_054027.4:c.1011+64A>C | NP_473368.1:n.1011+64A>C | |
XM_011514067.1:c.1011+64A>C | XP_011512369.1:n.1011+64A>C | |
NM_054027.5:c.1011+64A>C | NP_473368.1:n.1011+64A>C | |
XM_017009644.2:c.927+64A>C | XP_016865133.1:n.927+64A>C | |
NM_054027.6:c.1011+64A>C MANE Select | NP_473368.1:n.1011+64A>C |