Linked Data
gnomAD v4:
9-129818867-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818867G>C , CM000671.2:g.129818867G>C | GRCh38 |
| NC_000009.11:g.132581146G>C , CM000671.1:g.132581146G>C | GRCh37 |
| NC_000009.10:g.131620967G>C | NCBI36 |
| NG_008049.1:g.10296C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.498C>G MANE Select | ENSP00000345719.4:p.Ile166Met | |
| ENST00000651202.1:c.594C>G | ENSP00000498222.1:p.Ile198Met | |
| ENST00000351698.4:c.498C>G | ENSP00000345719.4:p.Ile166Met | |
| ENST00000473604.2:n.608C>G | ||
| NM_000113.2:c.498C>G | NP_000104.1:p.Ile166Met | |
| XR_929731.1:n.658C>G | ||
| XR_929731.3:n.526C>G | ||
| NM_000113.3:c.498C>G MANE Select | NP_000104.1:p.Ile166Met |