HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220435C>G , CM000684.2:g.50220435C>G | GRCh38 |
NC_000022.10:g.50658864C>G , CM000684.1:g.50658864C>G | GRCh37 |
NC_000022.9:g.49000991C>G | NCBI36 |
NG_032160.1:g.29537G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3924G>C MANE Select | ENSP00000248846.5:p.Leu1308= | |
ENST00000248846.9:c.3924G>C | ENSP00000248846.5:p.Leu1308= | |
ENST00000439308.6:c.3924G>C | ENSP00000397387.2:p.Leu1308= | |
ENST00000491449.5:n.2231G>C | ||
ENST00000498611.5:n.3618-420G>C | ||
NM_020461.3:c.3924G>C | NP_065194.2:p.Leu1308= | |
XR_938347.1:n.4489G>C | ||
XR_938348.1:n.3050-420G>C | ||
XR_001755343.2:n.4493G>C | ||
XR_001755344.2:n.4493G>C | ||
XR_002958720.1:n.3054-420G>C | ||
XR_938347.2:n.4493G>C | ||
NM_020461.4:c.3924G>C MANE Select | NP_065194.3:p.Leu1308= |