HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189368A>C , CM000675.2:g.20189368A>C | GRCh38 |
NC_000013.10:g.20763507A>C , CM000675.1:g.20763507A>C | GRCh37 |
NC_000013.9:g.19661507A>C | NCBI36 |
NG_008358.1:g.8608T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382844.2:c.214T>G | ENSP00000372295.1:p.Ser72Ala | |
ENST00000382848.5:c.214T>G MANE Select | ENSP00000372299.4:p.Ser72Ala | |
ENST00000382844.1:c.214T>G | ENSP00000372295.1:p.Ser72Ala | |
ENST00000382848.4:c.214T>G | ENSP00000372299.4:p.Ser72Ala | |
NM_004004.5:c.214T>G | NP_003995.2:p.Ser72Ala | |
XM_011535049.1:c.214T>G | XP_011533351.1:p.Ser72Ala | |
XM_011535049.2:c.214T>G | XP_011533351.1:p.Ser72Ala | |
NM_004004.6:c.214T>G MANE Select | NP_003995.2:p.Ser72Ala |