HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832879G>T , CM000673.2:g.116832879G>T | GRCh38 |
NC_000011.9:g.116703595G>T , CM000673.1:g.116703595G>T | GRCh37 |
NC_000011.8:g.116208805G>T | NCBI36 |
NG_008949.1:g.7972G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227667.8:c.295G>T MANE Select | ENSP00000227667.2:p.Ala99Ser | |
ENST00000227667.7:c.295G>T | ENSP00000227667.2:p.Ala99Ser | |
ENST00000375345.3:c.349G>T | ENSP00000364494.1:p.Ala117Ser | |
ENST00000630701.1:c.349G>T | ENSP00000486182.1:p.Ala117Ser | |
NM_000040.1:c.295G>T | NP_000031.1:p.Ala99Ser | |
NM_000040.2:c.295G>T | NP_000031.1:p.Ala99Ser | |
NM_000040.3:c.295G>T MANE Select | NP_000031.1:p.Ala99Ser |