HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81315063G>C , CM000678.2:g.81315063G>C | GRCh38 |
NC_000016.9:g.81348668G>C , CM000678.1:g.81348668G>C | GRCh37 |
NC_000016.8:g.79906169G>C | NCBI36 |
NG_009007.1:g.5098G>C , LRG_242:g.5098G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648349.2:c.-51G>C | ENSP00000498114.1:n.-51G>C | |
ENST00000648994.2:c.-51G>C MANE Select | ENSP00000497351.1:n.-51G>C | |
ENST00000674788.1:n.75G>C | ||
ENST00000568107.2:c.-51G>C | ENSP00000476795.1:n.-51G>C | |
NM_022041.3:c.-51G>C , LRG_242t1:c.-51G>C | NP_071324.1:n.-51G>C | |
XM_017023734.1:c.-575G>C | XP_016879223.1:n.-575G>C | |
NM_001377486.1:c.-575G>C | NP_001364415.1:n.-575G>C | |
NM_022041.4:c.-51G>C MANE Select | NP_071324.1:n.-51G>C |