Linked Data
gnomAD v4:
20-23047961-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047961G>C , CM000682.2:g.23047961G>C | GRCh38 |
| NC_000020.10:g.23028598G>C , CM000682.1:g.23028598G>C | GRCh37 |
| NC_000020.9:g.22976598G>C | NCBI36 |
| NG_012027.1:g.6704C>G , LRG_168:g.6704C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1544C>G MANE Select | ENSP00000366307.2:p.Ser515Trp | |
| ENST00000377103.2:c.1544C>G | ENSP00000366307.2:p.Ser515Trp | |
| NM_000361.2:c.1544C>G , LRG_168t1:c.1544C>G | NP_000352.1:p.Ser515Trp | |
| NM_000361.3:c.1544C>G MANE Select | NP_000352.1:p.Ser515Trp |