Linked Data
gnomAD v4:
9-129818683-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818683T>C , CM000671.2:g.129818683T>C | GRCh38 |
| NC_000009.11:g.132580962T>C , CM000671.1:g.132580962T>C | GRCh37 |
| NC_000009.10:g.131620783T>C | NCBI36 |
| NG_008049.1:g.10480A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.621-36A>G MANE Select | ENSP00000345719.4:n.621-36A>G | |
| ENST00000651202.1:c.717-36A>G | ENSP00000498222.1:n.717-36A>G | |
| ENST00000351698.4:c.621-36A>G | ENSP00000345719.4:n.621-36A>G | |
| ENST00000473604.2:n.731-36A>G | ||
| ENST00000474192.1:n.38-36A>G | ||
| NM_000113.2:c.621-36A>G | NP_000104.1:n.621-36A>G | |
| XR_929731.1:n.781-36A>G | ||
| XR_929731.3:n.649-36A>G | ||
| NM_000113.3:c.621-36A>G MANE Select | NP_000104.1:n.621-36A>G |