Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008229A>C , CM000666.2:g.88008229A>C | GRCh38 |
| NC_000004.11:g.88929381A>C , CM000666.1:g.88929381A>C | GRCh37 |
| NC_000004.10:g.89148405A>C | NCBI36 |
| NG_008604.1:g.5562A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.496A>C MANE Select | ENSP00000237596.2:p.Ser166Arg | |
| ENST00000237596.6:c.496A>C | ENSP00000237596.2:p.Ser166Arg | |
| NM_000297.3:c.496A>C | NP_000288.1:p.Ser166Arg | |
| XM_011532028.1:c.496A>C | XP_011530330.1:p.Ser166Arg | |
| XR_244632.2:n.591A>C | ||
| NR_156488.1:n.583A>C | ||
| XM_011532028.2:c.496A>C | XP_011530330.1:p.Ser166Arg | |
| NM_000297.4:c.496A>C MANE Select | NP_000288.1:p.Ser166Arg | |
| NR_156488.2:n.595A>C |