Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835395C= , CM000671.2:g.134835395C= | GRCh38 |
| NC_000009.11:g.137727241C= , CM000671.1:g.137727241C= | GRCh37 |
| NC_000009.10:g.136867062C= | NCBI36 |
| NG_008030.1:g.198590C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5370+191C= | ENSP00000360885.4:n.5370+191C= | |
| ENST00000371817.8:c.5370+191C= MANE Select | ENSP00000360882.3:n.5370+191C= | |
| ENST00000371817.7:c.5370+191C= | ENSP00000360882.3:n.5370+191C= | |
| ENST00000618395.4:c.5370+191C= | ENSP00000481360.1:n.5370+191C= | |
| NM_000093.4:c.5370+191C= | NP_000084.3:n.5370+191C= | |
| NM_001278074.1:c.5370+191C= | NP_001265003.1:n.5370+191C= | |
| NR_103451.2:n.71-15186G= | ||
| NM_000093.5:c.5370+191C= MANE Select | NP_000084.3:n.5370+191C= |