Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813725T>C , CM000671.2:g.129813725T>C | GRCh38 |
| NC_000009.11:g.132576004T>C , CM000671.1:g.132576004T>C | GRCh37 |
| NC_000009.10:g.131615825T>C | NCBI36 |
| NG_008049.1:g.15438A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*247A>G MANE Select | ENSP00000345719.4:n.*247A>G | |
| ENST00000651202.1:c.*514A>G | ENSP00000498222.1:n.*514A>G | |
| ENST00000351698.4:c.*247A>G | ENSP00000345719.4:n.*247A>G | |
| ENST00000474192.1:n.830A>G | ||
| NM_000113.2:c.*247A>G | NP_000104.1:n.*247A>G | |
| XR_929731.3:n.1441A>G | ||
| NM_000113.3:c.*247A>G MANE Select | NP_000104.1:n.*247A>G |