HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31860120C>G , CM000668.2:g.31860120C>G | GRCh38 |
NC_000006.11:g.31827897C>G , CM000668.1:g.31827897C>G | GRCh37 |
NC_000006.10:g.31935876C>G | NCBI36 |
NG_008201.1:g.7813G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.943G>C MANE Select | ENSP00000364782.4:p.Asp315His | |
ENST00000677054.1:n.2186G>C | ||
ENST00000677512.1:n.1225G>C | ||
ENST00000678869.1:n.1531G>C | ||
ENST00000375631.4:c.943G>C | ENSP00000364782.4:p.Asp315His | |
ENST00000480384.1:n.1146G>C | ||
ENST00000491768.5:c.*53G>C | ENSP00000433127.1:n.*53G>C | |
ENST00000495807.1:n.2251G>C | ||
NM_000434.3:c.943G>C | NP_000425.1:p.Asp315His | |
NM_000434.4:c.943G>C MANE Select | NP_000425.1:p.Asp315His |