Linked Data
gnomAD v4:
9-129813561-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813561A>C , CM000671.2:g.129813561A>C | GRCh38 |
| NC_000009.11:g.132575840A>C , CM000671.1:g.132575840A>C | GRCh37 |
| NC_000009.10:g.131615661A>C | NCBI36 |
| NG_008049.1:g.15602T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*411T>G MANE Select | ENSP00000345719.4:n.*411T>G | |
| ENST00000651202.1:c.*678T>G | ENSP00000498222.1:n.*678T>G | |
| ENST00000351698.4:c.*411T>G | ENSP00000345719.4:n.*411T>G | |
| NM_000113.2:c.*411T>G | NP_000104.1:n.*411T>G | |
| XR_929731.3:n.1605T>G | ||
| NM_000113.3:c.*411T>G MANE Select | NP_000104.1:n.*411T>G |