Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29531969G>C , CM000664.2:g.29531969G>C | GRCh38 |
| NC_000002.11:g.29754835G>C , CM000664.1:g.29754835G>C | GRCh37 |
| NC_000002.10:g.29608339G>C | NCBI36 |
| NG_009445.1:g.394598C>G , LRG_488:g.394598C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1100C>G MANE Select | NP_004295.2:p.Pro367Arg |
| ENST00000389048.8:c.1100C>G MANE Select | ENSP00000373700.3:p.Pro367Arg |
| NM_004304.4:c.1100C>G | NP_004295.2:p.Pro367Arg |
| ENST00000389048.7:c.1100C>G | ENSP00000373700.3:p.Pro367Arg |
| ENST00000618119.4:c.-32C>G | ENSP00000482733.1:n.-32C>G |
| XR_001738688.2:n.2030C>G |