HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093561T>C , CM000664.2:g.176093561T>C | GRCh38 |
NC_000002.11:g.176958289T>C , CM000664.1:g.176958289T>C | GRCh37 |
NC_000002.10:g.176666535T>C | NCBI36 |
NG_008137.1:g.5758T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.671T>C MANE Select | ENSP00000376322.3:p.Ile224Thr | |
ENST00000392539.3:c.671T>C | ENSP00000376322.3:p.Ile224Thr | |
NM_000523.3:c.671T>C | NP_000514.2:p.Ile224Thr | |
XM_011511068.1:c.725-919T>C | XP_011509370.1:n.725-919T>C | |
XM_011511068.2:c.725-919T>C | XP_011509370.1:n.725-919T>C | |
NM_000523.4:c.671T>C MANE Select | NP_000514.2:p.Ile224Thr |