Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143471041G>C , CM000668.2:g.143471041G>C | GRCh38 |
| NC_000006.11:g.143792178G>C , CM000668.1:g.143792178G>C | GRCh37 |
| NC_000006.10:g.143833871G>C | NCBI36 |
| NG_008459.1:g.25261G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.412G>C MANE Select | NP_003621.1:p.Gly138Arg |
| ENST00000367591.5:c.412G>C MANE Select | ENSP00000356563.4:p.Gly138Arg |
| NM_003630.2:c.412G>C | NP_003621.1:p.Gly138Arg |
| ENST00000367591.4:c.412G>C | ENSP00000356563.4:p.Gly138Arg |
| ENST00000367592.5:c.280G>C | ENSP00000356564.1:p.Gly94Arg |