HGVS | Genome Assembly |
---|---|
NC_000012.12:g.80506078T>C , CM000674.2:g.80506078T>C | GRCh38 |
NC_000012.11:g.80899857T>C , CM000674.1:g.80899857T>C | GRCh37 |
NC_000012.10:g.79423988T>C | NCBI36 |
NG_034052.1:g.66733T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644991.3:c.2327T>C MANE Select | ENSP00000495607.1:p.Ile776Thr | |
ENST00000614701.4:c.2327T>C | ENSP00000482885.1:p.Ile776Thr | |
ENST00000616559.4:c.2453T>C | ENSP00000483259.1:p.Ile818Thr | |
NM_001145026.1:c.2327T>C | NP_001138498.1:p.Ile776Thr | |
XM_011538290.1:c.2327T>C | XP_011536592.1:p.Ile776Thr | |
XR_945144.1:n.737+7256A>G | ||
XM_017019273.1:c.2993T>C | XP_016874762.1:p.Ile998Thr | |
XM_017019274.1:c.2993T>C | XP_016874763.1:p.Ile998Thr | |
XM_017019275.1:c.2993T>C | XP_016874764.1:p.Ile998Thr | |
XR_001748688.1:n.3130T>C | ||
XR_001748689.1:n.3130T>C | ||
NM_001145026.2:c.2327T>C MANE Select | NP_001138498.1:p.Ile776Thr |