HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33300488C>G , CM000681.2:g.33300488C>G | GRCh38 |
NC_000019.9:g.33791394C>G , CM000681.1:g.33791394C>G | GRCh37 |
NC_000019.8:g.38483234C>G | NCBI36 |
NG_012022.1:g.7037G>C , LRG_456:g.7037G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498907.3:c.*850G>C MANE Select | ENSP00000427514.1:n.*850G>C | |
ENST00000498907.2:c.*850G>C | ENSP00000427514.1:n.*850G>C | |
NM_001285829.1:c.*850G>C | NP_001272758.1:n.*850G>C | |
NM_001287424.1:c.*850G>C | NP_001274353.1:n.*850G>C | |
NM_001287435.1:c.*850G>C | NP_001274364.1:n.*850G>C | |
NM_004364.4:c.*850G>C | NP_004355.2:n.*850G>C | |
NM_001287424.2:c.*850G>C | NP_001274353.1:n.*850G>C | |
NM_004364.5:c.*850G>C MANE Select | NP_004355.2:n.*850G>C | |
NM_001285829.2:c.*850G>C | NP_001272758.1:n.*850G>C | |
NM_001287435.2:c.*850G>C | NP_001274364.1:n.*850G>C |