HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022717A>G , CM000663.2:g.17022717A>G | GRCh38 |
NC_000001.10:g.17349212A>G , CM000663.1:g.17349212A>G | GRCh37 |
NC_000001.9:g.17221799A>G | NCBI36 |
NG_012340.1:g.36454T>C , LRG_316:g.36454T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.485T>C | ENSP00000481376.2:p.Met162Thr | |
ENST00000491274.6:c.614T>C | ENSP00000480482.2:p.Met205Thr | |
ENST00000375499.8:c.656T>C MANE Select | ENSP00000364649.3:p.Met219Thr | |
ENST00000375499.7:c.656T>C | ENSP00000364649.3:p.Met219Thr | |
ENST00000475049.5:n.81T>C | ||
ENST00000485092.5:n.320T>C | ||
ENST00000485515.5:n.590T>C | ||
NM_003000.2:c.656T>C , LRG_316t1:c.656T>C | NP_002991.2:p.Met219Thr | |
NM_003000.3:c.656T>C MANE Select | NP_002991.2:p.Met219Thr |