HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256347A>C , CM000671.2:g.133256347A>C | GRCh38 |
NC_000009.11:g.136131734A>C , CM000671.1:g.136131734A>C | GRCh37 |
NC_000009.10:g.135121555A>C | NCBI36 |
NG_006669.1:g.21321T>G | |
NG_006669.2:g.23869T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.413T>G | ||
ENST00000647353.1:n.54-5195T>G | ||
ENST00000651471.1:n.339T>G | ||
ENST00000679909.1:c.28+18815T>G | ENSP00000506089.1:n.28+18815T>G | |
ENST00000453660.3:n.395T>G | ||
ENST00000538324.2:c.381T>G | ENSP00000483018.1:p.Ala127= | |
ENST00000611156.4:c.381T>G | ENSP00000483265.1:p.Ala127= | |
NM_020469.2:c.384T>G | NP_065202.2:p.Ala128= | |
NM_020469.3:c.384T>G | NP_065202.2:p.Ala128= |