HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107694423T>C , CM000669.2:g.107694423T>C | GRCh38 |
NC_000007.13:g.107334868T>C , CM000669.1:g.107334868T>C | GRCh37 |
NC_000007.12:g.107122104T>C | NCBI36 |
NG_008489.1:g.38789T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.1284T>C MANE Select | ENSP00000494017.1:p.Ala428= | |
ENST00000265715.7:c.1284T>C | ENSP00000265715.3:p.Ala428= | |
ENST00000460748.1:n.387T>C | ||
ENST00000477350.5:n.189-198T>C | ||
ENST00000480841.5:n.133T>C | ||
ENST00000497446.5:n.299T>C | ||
NM_000441.1:c.1284T>C | NP_000432.1:p.Ala428= | |
XM_005250425.1:c.1284T>C | XP_005250482.1:p.Ala428= | |
XM_005250425.2:c.1284T>C | XP_005250482.1:p.Ala428= | |
XM_017012318.1:c.1264-198T>C | XP_016867807.1:n.1264-198T>C | |
NM_000441.2:c.1284T>C MANE Select | NP_000432.1:p.Ala428= |