Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226969A>G , CM000664.2:g.29226969A>G | GRCh38 |
| NC_000002.11:g.29449835A>G , CM000664.1:g.29449835A>G | GRCh37 |
| NC_000002.10:g.29303339A>G | NCBI36 |
| NG_009445.1:g.699598T>C , LRG_488:g.699598T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3020T>C MANE Select | ENSP00000373700.3:p.Phe1007Ser | |
| ENST00000431873.6:c.186T>C | ||
| ENST00000389048.7:c.3020T>C | ENSP00000373700.3:p.Phe1007Ser | |
| ENST00000618119.4:c.1889T>C | ENSP00000482733.1:p.Phe630Ser | |
| NM_004304.4:c.3020T>C | NP_004295.2:p.Phe1007Ser | |
| XM_024452778.1:c.173T>C | XP_024308546.1:p.Phe58Ser | |
| XR_001738688.2:n.3876T>C | ||
| NM_004304.5:c.3020T>C MANE Select | NP_004295.2:p.Phe1007Ser |