Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835199T>C , CM000671.2:g.134835199T>C | GRCh38 |
| NC_000009.11:g.137727045T>C , CM000671.1:g.137727045T>C | GRCh37 |
| NC_000009.10:g.136866866T>C | NCBI36 |
| NG_008030.1:g.198394T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5365T>C | ENSP00000360885.4:p.Cys1789Arg | |
| ENST00000371817.8:c.5365T>C MANE Select | ENSP00000360882.3:p.Cys1789Arg | |
| ENST00000371817.7:c.5365T>C | ENSP00000360882.3:p.Cys1789Arg | |
| ENST00000371820.3:c.623T>C | ||
| ENST00000618395.4:c.5365T>C | ENSP00000481360.1:p.Cys1789Arg | |
| NM_000093.4:c.5365T>C | NP_000084.3:p.Cys1789Arg | |
| NM_001278074.1:c.5365T>C | NP_001265003.1:p.Cys1789Arg | |
| NR_103451.2:n.71-14990A>G | ||
| NM_000093.5:c.5365T>C MANE Select | NP_000084.3:p.Cys1789Arg |