Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40392335G>C , CM000679.2:g.40392335G>C | GRCh38 |
| NC_000017.10:g.38548587G>C , CM000679.1:g.38548587G>C | GRCh37 |
| NC_000017.9:g.35802113G>C | NCBI36 |
| NG_027678.1:g.30616C>G | |
| NG_027678.2:g.30616C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001067.4:c.3971C>G MANE Select | NP_001058.2:p.Thr1324Arg |
| ENST00000423485.6:c.3971C>G MANE Select | ENSP00000411532.1:p.Thr1324Arg |
| NM_001067.3:c.3971C>G | NP_001058.2:p.Thr1324Arg |
| ENST00000423485.5:c.3971C>G | ENSP00000411532.1:p.Thr1324Arg |
| XM_005257632.1:c.3935C>G | XP_005257689.1:p.Thr1312Arg |
| XM_011525165.1:c.3971C>G | XP_011523467.1:p.Thr1324Arg |
| XM_011525165.2:c.3971C>G | XP_011523467.1:p.Thr1324Arg |