Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77952549T>G , CM000666.2:g.77952549T>G | GRCh38 |
| NC_000004.11:g.78873703T>G , CM000666.1:g.78873703T>G | GRCh37 |
| NC_000004.10:g.79092727T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020236.4:c.920T>G MANE Select | NP_064621.3:p.Ile307Ser |
| ENST00000315567.13:c.920T>G MANE Select | ENSP00000315017.8:p.Ile307Ser |
| NM_020236.3:c.920T>G | NP_064621.3:p.Ile307Ser |
| ENST00000315567.12:c.920T>G | ENSP00000315017.8:p.Ile307Ser |
| ENST00000502384.3:c.698T>G | |
| ENST00000504901.2:n.301T>G | |
| XM_011532198.1:c.920T>G | XP_011530500.1:p.Ile307Ser |
| XM_011532199.1:c.920T>G | XP_011530501.1:p.Ile307Ser |
| XM_011532200.1:c.854T>G | XP_011530502.1:p.Ile285Ser |
| XR_001741317.1:n.1354T>G |