Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624208T>C , CM000679.2:g.41624208T>C | GRCh38 |
| NC_000017.10:g.39780460T>C , CM000679.1:g.39780460T>C | GRCh37 |
| NC_000017.9:g.37033986T>C | NCBI36 |
| NG_008625.1:g.5423A>G | |
| NG_009090.2:g.167505A>G , LRG_401:g.167505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.302A>G MANE Select | ENSP00000308452.8:p.Lys101Arg | |
| ENST00000311208.12:c.302A>G | ENSP00000308452.8:p.Lys101Arg | |
| ENST00000463128.5:c.-312-2A>G | ENSP00000468672.1:n.-312-2A>G | |
| ENST00000491673.1:n.368A>G | ||
| ENST00000493253.5:n.89A>G | ||
| ENST00000540235.5:c.72-17A>G | ENSP00000441751.2:n.72-17A>G | |
| ENST00000577817.3:c.257A>G | ENSP00000467418.1:p.Lys86Arg | |
| NM_000422.2:c.302A>G | NP_000413.1:p.Lys101Arg | |
| NM_000422.3:c.302A>G MANE Select | NP_000413.1:p.Lys101Arg |