HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123053119A>C , CM000672.2:g.123053119A>C | GRCh38 |
NC_000010.10:g.124812635A>C , CM000672.1:g.124812635A>C | GRCh37 |
NC_000010.9:g.124802625A>C | NCBI36 |
NG_008003.1:g.49207A>C , LRG_451:g.49207A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000358776.7:c.1187A>C MANE Select | ENSP00000357873.3:p.Lys396Thr | |
ENST00000358776.6:c.1187A>C | ENSP00000357873.3:p.Lys396Thr | |
ENST00000368869.8:c.881A>C | ENSP00000357862.4:p.Lys294Thr | |
ENST00000541070.1:n.359A>C | ||
NM_001609.3:c.1187A>C , LRG_451t1:c.1187A>C | NP_001600.1:p.Lys396Thr | |
NM_001330174.1:c.881A>C | NP_001317103.1:p.Lys294Thr | |
NM_001330174.2:c.881A>C | NP_001317103.1:p.Lys294Thr | |
NM_001609.4:c.1187A>C MANE Select | NP_001600.1:p.Lys396Thr | |
NM_001330174.3:c.881A>C | NP_001317103.1:p.Lys294Thr |