HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17816960G>T , CM000681.2:g.17816960G>T | GRCh38 |
NC_000019.9:g.17927769G>T , CM000681.1:g.17927769G>T | GRCh37 |
NC_000019.8:g.17788769G>T | NCBI36 |
NG_012092.1:g.9552C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.290C>A MANE Select | ENSP00000321724.6:p.Thr97Asn | |
ENST00000317306.7:c.290C>A | ENSP00000321724.6:p.Thr97Asn | |
ENST00000379695.5:c.385C>A | ENSP00000369017.4:p.Pro129Thr | |
ENST00000598577.1:c.311C>A | ||
NM_001265587.1:c.385C>A | NP_001252516.1:p.Pro129Thr | |
NM_005543.3:c.290C>A | NP_005534.2:p.Thr97Asn | |
NM_001265587.2:c.385C>A | NP_001252516.1:p.Pro129Thr | |
NM_005543.4:c.290C>A MANE Select | NP_005534.2:p.Thr97Asn |