Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370555G>C , CM000683.2:g.34370555G>C | GRCh38 |
| NC_000021.8:g.35742854G>C , CM000683.1:g.35742854G>C | GRCh37 |
| NC_000021.7:g.34664724G>C | NCBI36 |
| NG_008804.1:g.11532G>C , LRG_291:g.11532G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.77G>C MANE Select | NP_751951.1:p.Trp26Ser |
| ENST00000290310.4:c.77G>C MANE Select | ENSP00000290310.2:p.Trp26Ser |
| NM_172201.1:c.77G>C , LRG_291t1:c.77G>C | NP_751951.1:p.Trp26Ser |
| ENST00000290310.3:c.77G>C | ENSP00000290310.2:p.Trp26Ser |
| XR_001755012.2:n.887C>G | |
| XR_001755013.2:n.766C>G | |
| XR_937683.1:n.766C>G | |
| XR_937683.2:n.766C>G | |
| XR_937684.1:n.766C>G |