Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709607C>G , CM000663.2:g.114709607C>G | GRCh38 |
| NC_000001.10:g.115252228C>G , CM000663.1:g.115252228C>G | GRCh37 |
| NC_000001.9:g.115053751C>G | NCBI36 |
| NG_007572.1:g.12288G>C , LRG_92:g.12288G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002524.5:c.412G>C MANE Select | NP_002515.1:p.Gly138Arg |
| ENST00000369535.5:c.412G>C MANE Select | ENSP00000358548.4:p.Gly138Arg |
| NM_002524.4:c.412G>C | NP_002515.1:p.Gly138Arg |
| ENST00000369535.4:c.412G>C | ENSP00000358548.4:p.Gly138Arg |