HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186680291C>G , CM000663.2:g.186680291C>G | GRCh38 |
NC_000001.10:g.186649423C>G , CM000663.1:g.186649423C>G | GRCh37 |
NC_000001.9:g.184916046C>G | NCBI36 |
NG_028206.2:g.5137G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367468.10:c.-1G>C MANE Select | ENSP00000356438.5:n.-1G>C | |
ENST00000680451.1:c.-1G>C | ENSP00000506242.1:n.-1G>C | |
ENST00000681605.1:c.-1G>C | ENSP00000504900.1:n.-1G>C | |
ENST00000367468.9:c.-1G>C | ENSP00000356438.5:n.-1G>C | |
ENST00000490885.6:n.133G>C | ||
ENST00000559800.1:n.133G>C | ||
NM_000963.3:c.-1G>C | NP_000954.1:n.-1G>C | |
NM_000963.4:c.-1G>C MANE Select | NP_000954.1:n.-1G>C |