Linked Data
gnomAD v4:
1-58576796-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576796G>C , CM000663.2:g.58576796G>C | GRCh38 |
| NC_000001.10:g.59042468G>C , CM000663.1:g.59042468G>C | GRCh37 |
| NC_000001.9:g.58815056G>C | NCBI36 |
| NG_016237.1:g.5699C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.361C>G MANE Select | ENSP00000360269.2:p.Gln121Glu | |
| ENST00000371225.3:c.361C>G | ENSP00000360269.2:p.Gln121Glu | |
| NM_002353.2:c.361C>G | NP_002344.2:p.Gln121Glu | |
| NM_002353.3:c.361C>G MANE Select | NP_002344.2:p.Gln121Glu |