Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247720T>C , CM000670.2:g.95247720T>C | GRCh38 |
| NC_000008.10:g.96259948T>C , CM000670.1:g.96259948T>C | GRCh37 |
| NC_000008.9:g.96329124T>C | NCBI36 |
| NG_032804.1:g.26515A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.521A>G MANE Select | NP_808880.1:p.Lys174Arg |
| ENST00000286688.6:c.521A>G MANE Select | ENSP00000286688.5:p.Lys174Arg |
| NM_001363260.1:c.425A>G | NP_001350189.1:p.Lys142Arg |
| NM_177965.3:c.521A>G | NP_808880.1:p.Lys174Arg |
| ENST00000286688.5:c.521A>G | ENSP00000286688.5:p.Lys174Arg |
| XM_005250799.2:c.764A>G | XP_005250856.2:p.Lys255Arg |