Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459820G>C , CM000675.2:g.48459820G>C | GRCh38 |
| NC_000013.10:g.49033956G>C , CM000675.1:g.49033956G>C | GRCh37 |
| NC_000013.9:g.47931957G>C | NCBI36 |
| NG_009009.1:g.161074G>C , LRG_517:g.161074G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2093G>C MANE Select | NP_000312.2:p.Arg698Thr |
| ENST00000267163.6:c.2093G>C MANE Select | ENSP00000267163.4:p.Arg698Thr |
| NM_000321.2:c.2093G>C , LRG_517t1:c.2093G>C | NP_000312.2:p.Arg698Thr |
| ENST00000267163.4:c.2093G>C | ENSP00000267163.4:p.Arg698Thr |
| ENST00000643064.1:c.194+78377G>C | |
| ENST00000650461.1:c.2093G>C | ENSP00000497193.1:p.Arg698Thr |
| XM_011535171.1:c.1832G>C | XP_011533473.1:p.Arg611Thr |
| XM_011535171.2:c.1832G>C | XP_011533473.1:p.Arg611Thr |