HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861402G>T , CM000668.2:g.31861402G>T | GRCh38 |
NC_000006.11:g.31829179G>T , CM000668.1:g.31829179G>T | GRCh37 |
NC_000006.10:g.31937158G>T | NCBI36 |
NG_008201.1:g.6531C>A | |
NG_023058.1:g.22645C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.401C>A MANE Select | ENSP00000364782.4:p.Pro134His | |
ENST00000677054.1:n.1078C>A | ||
ENST00000677512.1:n.509C>A | ||
ENST00000678869.1:n.509C>A | ||
ENST00000375631.4:c.401C>A | ENSP00000364782.4:p.Pro134His | |
ENST00000480384.1:n.430C>A | ||
ENST00000491768.5:c.401C>A | ENSP00000433127.1:p.Pro134His | |
ENST00000495807.1:n.969C>A | ||
NM_000434.3:c.401C>A | NP_000425.1:p.Pro134His | |
NM_000434.4:c.401C>A MANE Select | NP_000425.1:p.Pro134His |