HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12790408T>C , CM000686.2:g.12790408T>C | GRCh38 |
NC_000024.9:g.14902341T>C , CM000686.1:g.14902341T>C | GRCh37 |
NC_000024.8:g.13411735T>C | NCBI36 |
NG_008311.1:g.94182T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.3563T>C | ENSP00000498372.1:p.Ile1188Thr | |
ENST00000338981.7:c.3563T>C MANE Select | ENSP00000342812.3:p.Ile1188Thr | |
ENST00000426564.6:n.3575T>C | ||
NM_004654.3:c.3563T>C | NP_004645.2:p.Ile1188Thr | |
XM_011531469.1:c.3563T>C | XP_011529771.1:p.Ile1188Thr | |
XM_011531470.1:c.3329T>C | XP_011529772.1:p.Ile1110Thr | |
XM_017030078.2:c.3578T>C | XP_016885567.1:p.Ile1193Thr | |
NM_004654.4:c.3563T>C MANE Select | NP_004645.2:p.Ile1188Thr |