HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24261972C>G , CM000676.2:g.24261972C>G | GRCh38 |
NC_000014.8:g.24731178C>G , CM000676.1:g.24731178C>G | GRCh37 |
NC_000014.7:g.23801018C>G | NCBI36 |
NG_007150.1:g.6195G>C | |
NG_007150.2:g.6195G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.319+62G>C MANE Select | ENSP00000206765.6:n.319+62G>C | |
ENST00000206765.10:c.319+62G>C | ENSP00000206765.6:n.319+62G>C | |
ENST00000544573.5:c.-29+155G>C | ENSP00000439446.1:n.-29+155G>C | |
ENST00000558074.1:c.319+62G>C | ENSP00000453840.1:n.319+62G>C | |
NM_000359.2:c.319+62G>C | NP_000350.1:n.319+62G>C | |
NM_000359.3:c.319+62G>C MANE Select | NP_000350.1:n.319+62G>C |