HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133656634T>C , CM000671.2:g.133656634T>C | GRCh38 |
NC_000009.11:g.136521756T>C , CM000671.1:g.136521756T>C | GRCh37 |
NC_000009.10:g.135511577T>C | NCBI36 |
NG_008645.1:g.25272T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.1546T>C (DBH) MANE Select | ENSP00000376776.2:p.Phe516Leu | |
ENST00000393056.6:c.1546T>C (DBH) | ENSP00000376776.2:p.Phe516Leu | |
NM_000787.3:c.1546T>C (DBH) | NP_000778.3:p.Phe516Leu | |
NR_102735.1:n.283-97A>G (DBH-AS1) | ||
NM_000787.4:c.1546T>C (DBH) MANE Select | NP_000778.3:p.Phe516Leu |