HGVS | Genome Assembly |
---|---|
NC_000007.14:g.76329934G>C , CM000669.2:g.76329934G>C | GRCh38 |
NC_000007.13:g.75959251G>C , CM000669.1:g.75959251G>C | GRCh37 |
NC_000007.12:g.75797187G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307630.5:c.387C>G MANE Select | ENSP00000306330.3:p.Asp129Glu | |
ENST00000307630.4:c.387C>G | ENSP00000306330.3:p.Asp129Glu | |
NM_012479.3:c.387C>G | NP_036611.2:p.Asp129Glu | |
NM_012479.4:c.387C>G MANE Select | NP_036611.2:p.Asp129Glu |