Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813535A>G , CM000671.2:g.129813535A>G | GRCh38 |
| NC_000009.11:g.132575814A>G , CM000671.1:g.132575814A>G | GRCh37 |
| NC_000009.10:g.131615635A>G | NCBI36 |
| NG_008049.1:g.15628T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*437T>C MANE Select | ENSP00000345719.4:n.*437T>C | |
| ENST00000651202.1:c.*704T>C | ENSP00000498222.1:n.*704T>C | |
| ENST00000351698.4:c.*437T>C | ENSP00000345719.4:n.*437T>C | |
| NM_000113.2:c.*437T>C | NP_000104.1:n.*437T>C | |
| XR_929731.3:n.1631T>C | ||
| NM_000113.3:c.*437T>C MANE Select | NP_000104.1:n.*437T>C |