Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624163A>C , CM000679.2:g.41624163A>C | GRCh38 |
| NC_000017.10:g.39780415A>C , CM000679.1:g.39780415A>C | GRCh37 |
| NC_000017.9:g.37033941A>C | NCBI36 |
| NG_008625.1:g.5468T>G | |
| NG_009090.2:g.167550T>G , LRG_401:g.167550T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.347T>G MANE Select | ENSP00000308452.8:p.Ile116Ser | |
| ENST00000311208.12:c.347T>G | ENSP00000308452.8:p.Ile116Ser | |
| ENST00000463128.5:c.-269T>G | ENSP00000468672.1:n.-269T>G | |
| ENST00000491673.1:n.413T>G | ||
| ENST00000493253.5:n.134T>G | ||
| ENST00000540235.5:c.98T>G | ENSP00000441751.2:p.Ile33Ser | |
| ENST00000577817.3:c.302T>G | ENSP00000467418.1:p.Ile101Ser | |
| NM_000422.2:c.347T>G | NP_000413.1:p.Ile116Ser | |
| NM_000422.3:c.347T>G MANE Select | NP_000413.1:p.Ile116Ser |