Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134750857C= , CM000671.2:g.134750857C= | GRCh38 |
| NC_000009.11:g.137642703C= , CM000671.1:g.137642703C= | GRCh37 |
| NC_000009.10:g.136782524C= | NCBI36 |
| NG_008030.1:g.114052C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000093.5:c.1637C= MANE Select | NP_000084.3:p.Ala546= |
| ENST00000371817.8:c.1637C= MANE Select | ENSP00000360882.3:p.Ala546= |
| NM_000093.4:c.1637C= | NP_000084.3:p.Ala546= |
| NM_001278074.1:c.1637C= | NP_001265003.1:p.Ala546= |
| ENST00000371817.7:c.1637C= | ENSP00000360882.3:p.Ala546= |
| ENST00000371820.4:c.1637C= | ENSP00000360885.4:p.Ala546= |
| ENST00000618395.4:c.1637C= | ENSP00000481360.1:p.Ala546= |
| XM_017014266.2:c.1637C= | XP_016869755.1:p.Ala546= |
| XR_001746183.1:n.2035C= | |
| XR_929712.1:n.2039C= | |
| XR_929713.1:n.2039C= |