HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272646C>T , CM000676.2:g.91272646C>T | GRCh38 |
NC_000014.8:g.91738990C>T , CM000676.1:g.91738990C>T | GRCh37 |
NC_000014.7:g.90808743C>T | NCBI36 |
NG_033118.1:g.150199G>A | |
NG_033118.2:g.150199G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6066G>A MANE Select | ENSP00000374507.6:p.Trp2022Ter | |
ENST00000331194.8:c.1500G>A | ENSP00000330332.8:p.Trp500Ter | |
ENST00000389857.10:c.6066G>A | ENSP00000374507.6:p.Trp2022Ter | |
ENST00000556726.5:c.2294G>A | ||
NM_001080414.3:c.6066G>A | NP_001073883.2:p.Trp2022Ter | |
XM_011536796.1:c.5958G>A | XP_011535098.1:p.Trp1986Ter | |
XM_011536796.2:c.5958G>A | XP_011535098.1:p.Trp1986Ter | |
XM_017021336.1:c.3147G>A | XP_016876825.1:p.Trp1049Ter | |
NM_001080414.4:c.6066G>A MANE Select | NP_001073883.2:p.Trp2022Ter |