HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81357898A>C , CM000678.2:g.81357898A>C | GRCh38 |
NC_000016.9:g.81391503A>C , CM000678.1:g.81391503A>C | GRCh37 |
NC_000016.8:g.79949004A>C | NCBI36 |
NG_009007.1:g.47933A>C , LRG_242:g.47933A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*648A>C | ENSP00000498114.1:n.*648A>C | |
ENST00000648994.2:c.940A>C MANE Select | ENSP00000497351.1:p.Met314Leu | |
ENST00000650388.1:c.474A>C | ENSP00000498081.1:n.474A>C | |
ENST00000568107.2:c.940A>C | ENSP00000476795.1:p.Met314Leu | |
NM_022041.3:c.940A>C , LRG_242t1:c.940A>C | NP_071324.1:p.Met314Leu | |
XM_017023734.1:c.301A>C | XP_016879223.1:p.Met101Leu | |
NM_001377486.1:c.301A>C | NP_001364415.1:p.Met101Leu | |
NM_022041.4:c.940A>C MANE Select | NP_071324.1:p.Met314Leu |