Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25229326G>C , CM000664.2:g.25229326G>C | GRCh38 |
| NC_000002.11:g.25452195G>C , CM000664.1:g.25452195G>C | GRCh37 |
| NC_000002.10:g.25305699G>C | NCBI36 |
| NG_029465.2:g.118265C>G , LRG_459:g.118265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321117.10:c.*4953C>G MANE Select | ENSP00000324375.5:n.*4953C>G | |
| ENST00000264709.7:c.*4953C>G | ENSP00000264709.3:n.*4953C>G | |
| NR_135490.2:n.8122C>G | ||
| NM_022552.5:c.*4953C>G MANE Select | NP_072046.2:n.*4953C>G |