Linked Data
gnomAD v4:
10-30313491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313491A>G , CM000672.2:g.30313491A>G | GRCh38 |
| NC_000010.10:g.30602420A>G , CM000672.1:g.30602420A>G | GRCh37 |
| NC_000010.9:g.30642426A>G | NCBI36 |
| NG_028096.1:g.40848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*118T>C MANE Select | ENSP00000263063.3:n.*118T>C | |
| ENST00000263063.8:c.*118T>C | ENSP00000263063.3:n.*118T>C | |
| ENST00000488290.5:n.3622T>C | ||
| NM_018109.3:c.*118T>C | NP_060579.3:n.*118T>C | |
| NM_018109.4:c.*118T>C MANE Select | NP_060579.3:n.*118T>C |