Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41743971T>C , CM000683.2:g.41743971T>C | GRCh38 |
| NC_000021.8:g.43164131T>C , CM000683.1:g.43164131T>C | GRCh37 |
| NC_000021.7:g.42037200T>C | NCBI36 |
| NG_032113.1:g.28119A>G | |
| NG_032113.2:g.28119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.1106A>G MANE Select | ENSP00000332454.3:p.Lys369Arg | |
| ENST00000332512.7:c.1106A>G | ENSP00000332454.3:p.Lys369Arg | |
| ENST00000352483.3:c.1250A>G | ENSP00000330161.2:p.Lys417Arg | |
| NM_020639.2:c.1106A>G | NP_065690.2:p.Lys369Arg | |
| NM_020639.3:c.1106A>G MANE Select | NP_065690.2:p.Lys369Arg |