HGVS | Genome Assembly |
---|---|
NC_000005.10:g.7649747C>G , CM000667.2:g.7649747C>G | GRCh38 |
NC_000005.9:g.7649860C>G , CM000667.1:g.7649860C>G | GRCh37 |
NC_000005.8:g.7702860C>G | NCBI36 |
NG_046913.1:g.258518C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338316.9:c.720+23431C>G MANE Select | ENSP00000342952.4:n.720+23431C>G | |
ENST00000338316.8:c.720+23431C>G | ENSP00000342952.4:n.720+23431C>G | |
ENST00000498598.1:n.420-8279C>G | ||
ENST00000515681.1:c.87+23431C>G | ENSP00000425069.1:n.87+23431C>G | |
ENST00000537121.5:c.714+23431C>G | ENSP00000444803.2:n.714+23431C>G | |
NM_020546.2:c.720+23431C>G | NP_065433.2:n.720+23431C>G | |
XM_011513942.1:c.720+23431C>G | XP_011512244.1:n.720+23431C>G | |
XR_427657.2:n.734+23431C>G | ||
XM_011513942.2:c.720+23431C>G | XP_011512244.1:n.720+23431C>G | |
XR_001741973.1:n.734+23431C>G | ||
XR_001741974.2:n.734+23431C>G | ||
NM_020546.3:c.720+23431C>G MANE Select | NP_065433.2:n.720+23431C>G |