HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45987758G>C , CM000683.2:g.45987758G>C | GRCh38 |
NC_000021.8:g.47407672G>C , CM000683.1:g.47407672G>C | GRCh37 |
NC_000021.7:g.46232100G>C | NCBI36 |
NG_008674.1:g.11010G>C , LRG_475:g.11010G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.804+104G>C MANE Select | ENSP00000355180.3:n.804+104G>C | |
ENST00000361866.7:c.804+104G>C | ENSP00000355180.3:n.804+104G>C | |
ENST00000612273.1:c.804+104G>C | ENSP00000483630.1:n.804+104G>C | |
NM_001848.2:c.804+104G>C , LRG_475t1:c.804+104G>C | NP_001839.2:n.804+104G>C | |
NM_001848.3:c.804+104G>C MANE Select | NP_001839.2:n.804+104G>C |