HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997071G>T , CM000685.2:g.154997071G>T | GRCh38 |
NC_000023.10:g.154225346G>T , CM000685.1:g.154225346G>T | GRCh37 |
NC_000023.9:g.153878540G>T | NCBI36 |
NG_011403.1:g.30653C>A | |
NG_011403.2:g.30653C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.290C>A MANE Select | ENSP00000353393.4:p.Ala97Asp | |
ENST00000647125.1:c.*76C>A | ENSP00000496062.1:n.*76C>A | |
ENST00000360256.8:c.290C>A | ENSP00000353393.4:p.Ala97Asp | |
ENST00000423959.5:c.185C>A | ENSP00000409446.1:p.Ala62Asp | |
ENST00000453950.1:c.272C>A | ENSP00000389153.1:p.Ala91Asp | |
NM_000132.3:c.290C>A | NP_000123.1:p.Ala97Asp | |
XM_011531126.1:c.185C>A | XP_011529428.1:p.Ala62Asp | |
NM_000132.4:c.290C>A MANE Select | NP_000123.1:p.Ala97Asp |