Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624209T>G , CM000679.2:g.41624209T>G | GRCh38 |
| NC_000017.10:g.39780461T>G , CM000679.1:g.39780461T>G | GRCh37 |
| NC_000017.9:g.37033987T>G | NCBI36 |
| NG_008625.1:g.5422A>C | |
| NG_009090.2:g.167504A>C , LRG_401:g.167504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.301A>C MANE Select | ENSP00000308452.8:p.Lys101Gln | |
| ENST00000311208.12:c.301A>C | ENSP00000308452.8:p.Lys101Gln | |
| ENST00000463128.5:c.-312-3A>C | ENSP00000468672.1:n.-312-3A>C | |
| ENST00000491673.1:n.367A>C | ||
| ENST00000493253.5:n.88A>C | ||
| ENST00000540235.5:c.72-18A>C | ENSP00000441751.2:n.72-18A>C | |
| ENST00000577817.3:c.256A>C | ENSP00000467418.1:p.Lys86Gln | |
| NM_000422.2:c.301A>C | NP_000413.1:p.Lys101Gln | |
| NM_000422.3:c.301A>C MANE Select | NP_000413.1:p.Lys101Gln |