Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78300647G>C , CM000671.2:g.78300647G>C | GRCh38 |
| NC_000009.11:g.80915563G>C , CM000671.1:g.80915563G>C | GRCh37 |
| NC_000009.10:g.80105383G>C | NCBI36 |
| NG_012165.1:g.8505G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058179.4:c.106G>C MANE Select | NP_478059.1:p.Gly36Arg |
| ENST00000376588.4:c.106G>C MANE Select | ENSP00000365773.3:p.Gly36Arg |
| NM_021154.4:c.106G>C | NP_066977.1:p.Gly36Arg |
| NM_021154.5:c.106G>C | NP_066977.1:p.Gly36Arg |
| NM_058179.3:c.106G>C | NP_478059.1:p.Gly36Arg |
| ENST00000347159.6:c.106G>C | ENSP00000317606.2:p.Gly36Arg |
| ENST00000376588.3:c.106G>C | ENSP00000365773.3:p.Gly36Arg |