Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133025748G>C , CM000685.2:g.133025748G>C | GRCh38 |
| NC_000023.10:g.132159776G>C , CM000685.1:g.132159776G>C | GRCh37 |
| NC_000023.9:g.131987442G>C | NCBI36 |
| NG_013268.1:g.7525C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031907.3:c.2473C>G MANE Select | NP_114113.1:p.Arg825Gly |
| ENST00000511190.6:c.2473C>G MANE Select | ENSP00000423390.1:p.Arg825Gly |
| NM_031907.1:c.2473C>G | NP_114113.1:p.Arg825Gly |
| NM_031907.2:c.2473C>G | NP_114113.1:p.Arg825Gly |
| ENST00000370832.1:c.2473C>G | ENSP00000359869.1:p.Arg825Gly |
| ENST00000511190.5:c.2473C>G | ENSP00000423390.1:p.Arg825Gly |
| XM_017029892.1:c.2473C>G | XP_016885381.1:p.Arg825Gly |