Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813842T>C , CM000671.2:g.129813842T>C | GRCh38 |
| NC_000009.11:g.132576121T>C , CM000671.1:g.132576121T>C | GRCh37 |
| NC_000009.10:g.131615942T>C | NCBI36 |
| NG_008049.1:g.15321A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*130A>G MANE Select | ENSP00000345719.4:n.*130A>G | |
| ENST00000651202.1:c.*397A>G | ENSP00000498222.1:n.*397A>G | |
| ENST00000351698.4:c.*130A>G | ENSP00000345719.4:n.*130A>G | |
| ENST00000474192.1:n.713A>G | ||
| NM_000113.2:c.*130A>G | NP_000104.1:n.*130A>G | |
| XR_929731.3:n.1324A>G | ||
| NM_000113.3:c.*130A>G MANE Select | NP_000104.1:n.*130A>G |