HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710841A>G , CM000681.2:g.6710841A>G | GRCh38 |
NC_000019.9:g.6710852A>G , CM000681.1:g.6710852A>G | GRCh37 |
NC_000019.8:g.6661852A>G | NCBI36 |
NG_009557.1:g.14811T>C , LRG_27:g.14811T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1361T>C | ENSP00000512083.1:p.Met454Thr | |
ENST00000695654.1:c.608T>C | ENSP00000512085.1:p.Met203Thr | |
ENST00000695655.1:c.389T>C | ENSP00000512086.1:p.Met130Thr | |
ENST00000695692.1:n.848T>C | ||
ENST00000245907.11:c.1484T>C MANE Select | ENSP00000245907.4:p.Met495Thr | |
ENST00000245907.10:c.1484T>C | ENSP00000245907.4:p.Met495Thr | |
ENST00000600763.1:n.117T>C | ||
NM_000064.3:c.1484T>C | NP_000055.2:p.Met495Thr | |
NM_000064.4:c.1484T>C MANE Select | NP_000055.2:p.Met495Thr |