HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354717G>C , CM000678.2:g.81354717G>C | GRCh38 |
NC_000016.9:g.81388322G>C , CM000678.1:g.81388322G>C | GRCh37 |
NC_000016.8:g.79945823G>C | NCBI36 |
NG_009007.1:g.44752G>C , LRG_242:g.44752G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*303G>C | ENSP00000498114.1:n.*303G>C | |
ENST00000648994.2:c.595G>C MANE Select | ENSP00000497351.1:p.Val199Leu | |
ENST00000650388.1:c.168-2068G>C | ENSP00000498081.1:n.168-2068G>C | |
ENST00000674788.1:n.720G>C | ||
ENST00000568107.2:c.595G>C | ENSP00000476795.1:p.Val199Leu | |
NM_022041.3:c.595G>C , LRG_242t1:c.595G>C | NP_071324.1:p.Val199Leu | |
XM_017023734.1:c.-45G>C | XP_016879223.1:n.-45G>C | |
NM_001377486.1:c.-45G>C | NP_001364415.1:n.-45G>C | |
NM_022041.4:c.595G>C MANE Select | NP_071324.1:p.Val199Leu |