HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186673854A>G , CM000663.2:g.186673854A>G | GRCh38 |
NC_000001.10:g.186642986A>G , CM000663.1:g.186642986A>G | GRCh37 |
NC_000001.9:g.184909609A>G | NCBI36 |
NG_028206.2:g.11574T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367468.10:c.*499T>C MANE Select | ENSP00000356438.5:n.*499T>C | |
ENST00000680451.1:c.*499T>C | ENSP00000506242.1:n.*499T>C | |
ENST00000681605.1:c.*1986T>C | ENSP00000504900.1:n.*1986T>C | |
ENST00000367468.9:c.*499T>C | ENSP00000356438.5:n.*499T>C | |
ENST00000490885.6:n.2729T>C | ||
NM_000963.3:c.*499T>C | NP_000954.1:n.*499T>C | |
NM_000963.4:c.*499T>C MANE Select | NP_000954.1:n.*499T>C |