Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17592721G= , CM000684.2:g.17592721G= | GRCh38 |
| NC_000022.10:g.18075487G= , CM000684.1:g.18075487G= | GRCh37 |
| NC_000022.9:g.16455487G= | NCBI36 |
| NG_009214.1:g.41102C= | |
| NG_009214.2:g.41102C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001696.4:c.634C= MANE Select | NP_001687.1:p.Arg212= |
| ENST00000253413.10:c.634C= MANE Select | ENSP00000253413.5:p.Arg212= |
| NM_001039366.1:c.568C= | NP_001034455.1:p.Arg190= |
| NM_001039367.1:c.544C= | NP_001034456.1:p.Arg182= |
| NM_001696.3:c.634C= | NP_001687.1:p.Arg212= |
| ENST00000253413.9:c.634C= | ENSP00000253413.5:p.Arg212= |
| ENST00000399796.6:c.544C= | ENSP00000382694.2:p.Arg182= |
| ENST00000399798.6:c.568C= | ENSP00000382696.2:p.Arg190= |
| ENST00000473248.1:n.780C= |