HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192276G>C , CM000671.2:g.137192276G>C | GRCh38 |
NC_000009.11:g.140086728G>C , CM000671.1:g.140086728G>C | GRCh37 |
NC_000009.10:g.139206549G>C | NCBI36 |
NG_027801.1:g.13436C>G | |
NG_027801.2:g.16918C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.2056C>G MANE Select | ENSP00000387100.4:p.Pro686Ala | |
ENST00000333046.8:c.1450C>G | ENSP00000327617.4:p.Pro484Ala | |
ENST00000409012.4:c.2056C>G | ENSP00000387100.4:p.Pro686Ala | |
ENST00000477345.1:n.2777C>G | ||
NM_001128228.2:c.2056C>G | NP_001121700.2:p.Pro686Ala | |
NM_001128228.3:c.2056C>G MANE Select | NP_001121700.2:p.Pro686Ala |