Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312475G>C , CM000668.2:g.35312475G>C | GRCh38 |
| NC_000006.11:g.35280252G>C , CM000668.1:g.35280252G>C | GRCh37 |
| NC_000006.10:g.35388230G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.486G>C | ENSP00000415357.3:p.Arg162= | |
| ENST00000698929.1:c.423+1831G>C | ENSP00000514040.1:n.423+1831G>C | |
| ENST00000698930.1:c.*244G>C | ENSP00000514041.1:n.*244G>C | |
| ENST00000698931.1:n.621G>C | ||
| ENST00000316637.7:c.597G>C MANE Select | ENSP00000319831.5:p.Arg199= | |
| ENST00000316637.6:c.597G>C | ENSP00000319831.5:p.Arg199= | |
| ENST00000444278.2:c.322G>C | ||
| NM_022047.3:c.597G>C | NP_071330.3:p.Arg199= | |
| NM_022047.4:c.597G>C MANE Select | NP_071330.3:p.Arg199= |