HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644296T>C , CM000671.2:g.133644296T>C | GRCh38 |
NC_000009.11:g.136509418T>C , CM000671.1:g.136509418T>C | GRCh37 |
NC_000009.10:g.135499239T>C | NCBI36 |
NG_008645.1:g.12934T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.1000T>C MANE Select | ENSP00000376776.2:p.Tyr334His | |
ENST00000393056.6:c.1000T>C | ENSP00000376776.2:p.Tyr334His | |
NM_000787.3:c.1000T>C | NP_000778.3:p.Tyr334His | |
NM_000787.4:c.1000T>C MANE Select | NP_000778.3:p.Tyr334His |