HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845698C>T , CM000672.2:g.99845698C>T | GRCh38 |
NC_000010.10:g.101605455C>T , CM000672.1:g.101605455C>T | GRCh37 |
NC_000010.9:g.101595445C>T | NCBI36 |
NG_011798.1:g.67993C>T | |
NG_011798.2:g.68101C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4062C>T MANE Select | ENSP00000497274.1:p.Ala1354= | |
ENST00000649459.1:n.410C>T | ||
ENST00000370449.8:c.4062C>T | ENSP00000359478.4:p.Ala1354= | |
NM_000392.4:c.4062C>T | NP_000383.1:p.Ala1354= | |
XM_006717630.2:c.3366C>T | XP_006717693.1:p.Ala1122= | |
XR_945604.1:n.4192C>T | ||
XR_945605.1:n.4126C>T | ||
NM_000392.5:c.4062C>T MANE Select | NP_000383.2:p.Ala1354= | |
XM_006717630.3:c.3366C>T | XP_006717693.1:p.Ala1122= | |
XR_945604.3:n.4246C>T | ||
XR_945605.3:n.4178C>T |