HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993146C>T , CM000685.2:g.154993146C>T | GRCh38 |
NC_000023.10:g.154221421C>T , CM000685.1:g.154221421C>T | GRCh37 |
NC_000023.9:g.153874615C>T | NCBI36 |
NG_011403.1:g.34578G>A | |
NG_011403.2:g.34578G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.391G>A MANE Select | ENSP00000353393.4:p.Ala131Thr | |
ENST00000647125.1:c.*177G>A | ENSP00000496062.1:n.*177G>A | |
ENST00000360256.8:c.391G>A | ENSP00000353393.4:p.Ala131Thr | |
ENST00000423959.5:c.286G>A | ENSP00000409446.1:p.Ala96Thr | |
ENST00000453950.1:c.373G>A | ENSP00000389153.1:p.Ala125Thr | |
NM_000132.3:c.391G>A | NP_000123.1:p.Ala131Thr | |
XM_011531126.1:c.286G>A | XP_011529428.1:p.Ala96Thr | |
NM_000132.4:c.391G>A MANE Select | NP_000123.1:p.Ala131Thr |