Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71110766T>C , CM000664.2:g.71110766T>C | GRCh38 |
| NC_000002.11:g.71337896T>C , CM000664.1:g.71337896T>C | GRCh37 |
| NC_000002.10:g.71191404T>C | NCBI36 |
| NG_008977.1:g.24499A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032601.4:c.379-644A>G MANE Select | NP_115990.3:n.379-644A>G |
| ENST00000244217.6:c.379-644A>G MANE Select | ENSP00000244217.5:n.379-644A>G |
| NM_032601.3:c.379-644A>G | NP_115990.3:n.379-644A>G |
| ENST00000244217.5:c.379-644A>G | ENSP00000244217.5:n.379-644A>G |
| ENST00000413592.5:c.85-644A>G | ENSP00000391140.1:n.85-644A>G |
| ENST00000462609.2:n.321A>G | |
| XM_005264613.2:c.217-644A>G | XP_005264670.1:n.217-644A>G |
| XR_939729.1:n.540A>G | |
| XR_939729.2:n.540A>G |