HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214447G>C , CM000681.2:g.9214447G>C | GRCh38 |
NC_000019.9:g.9325123G>C , CM000681.1:g.9325123G>C | GRCh37 |
NC_000019.8:g.9186123G>C | NCBI36 |
NG_027953.1:g.5425C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641244.1:c.391C>G | ENSP00000493404.1:p.His131Asp | |
ENST00000641669.1:c.391C>G MANE Select | ENSP00000493383.1:p.His131Asp | |
ENST00000308682.3:c.391C>G | ENSP00000310488.2:p.His131Asp | |
NM_001005191.2:c.391C>G | NP_001005191.1:p.His131Asp | |
NM_001005191.3:c.391C>G MANE Select | NP_001005191.1:p.His131Asp |