HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948797T>G , CM000679.2:g.16948797T>G | GRCh38 |
NC_000017.10:g.16852111T>G , CM000679.1:g.16852111T>G | GRCh37 |
NC_000017.9:g.16792836T>G | NCBI36 |
NG_007281.1:g.28292A>C , LRG_120:g.28292A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.386A>C MANE Select | ENSP00000261652.2:p.Asn129Thr | |
ENST00000261652.6:c.386A>C | ENSP00000261652.2:p.Asn129Thr | |
ENST00000579315.5:c.386A>C | ENSP00000464069.1:p.Asn129Thr | |
ENST00000581616.2:n.389A>C | ||
ENST00000582931.5:n.290A>C | ||
ENST00000583789.1:c.248A>C | ENSP00000462952.1:p.Asn83Thr | |
ENST00000584950.5:c.248A>C | ENSP00000463582.1:p.Asn83Thr | |
NM_012452.2:c.386A>C , LRG_120t1:c.386A>C | NP_036584.1:p.Asn129Thr | |
NM_012452.3:c.386A>C MANE Select | NP_036584.1:p.Asn129Thr |