HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816594A>G , CM000681.2:g.4816594A>G | GRCh38 |
NC_000019.9:g.4816606A>G , CM000681.1:g.4816606A>G | GRCh37 |
NC_000019.8:g.4767606A>G | NCBI36 |
NG_031998.1:g.20149T>C , LRG_358:g.20149T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1784T>C MANE Select | ENSP00000248244.4:p.Met595Thr | |
ENST00000248244.5:c.1784T>C | ENSP00000248244.4:p.Met595Thr | |
ENST00000621756.1:c.1367T>C | ENSP00000479467.1:p.Met456Thr | |
NM_182919.3:c.1784T>C , LRG_358t1:c.1784T>C | NP_891549.1:p.Met595Thr | |
NM_001385678.1:c.1742T>C | NP_001372607.1:p.Met581Thr | |
NM_001385679.1:c.1649T>C | NP_001372608.1:p.Met550Thr | |
NM_001385680.1:c.1142T>C | NP_001372609.1:p.Met381Thr | |
NM_182919.4:c.1784T>C MANE Select | NP_891549.1:p.Met595Thr |