HGVS | Genome Assembly |
---|---|
NC_000012.12:g.89350764T>C , CM000674.2:g.89350764T>C | GRCh38 |
NC_000012.11:g.89744541T>C , CM000674.1:g.89744541T>C | GRCh37 |
NC_000012.10:g.88268672T>C | NCBI36 |
NG_033915.1:g.7096A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000279488.8:c.662A>G MANE Select | ENSP00000279488.6:p.Asp221Gly | |
ENST00000279488.7:c.662A>G | ENSP00000279488.6:p.Asp221Gly | |
ENST00000308385.6:c.400+876A>G | ENSP00000307835.6:n.400+876A>G | |
ENST00000547140.1:n.348A>G | ||
ENST00000547291.1:c.287A>G | ENSP00000449838.1:p.Asp96Gly | |
NM_001946.3:c.662A>G | NP_001937.2:p.Asp221Gly | |
NM_022652.3:c.400+876A>G | NP_073143.2:n.400+876A>G | |
NM_001946.4:c.662A>G MANE Select | NP_001937.2:p.Asp221Gly | |
NM_022652.4:c.400+876A>G | NP_073143.2:n.400+876A>G |