Linked Data
gnomAD v4:
11-203015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.203015C>T , CM000673.2:g.203015C>T | GRCh38 |
| NC_000011.9:g.203015C>T , CM000673.1:g.203015C>T | GRCh37 |
| NC_000011.8:g.193015C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*2287G>A MANE Select | ENSP00000372210.3:n.*2287G>A | |
| ENST00000325147.13:c.*2455G>A | ENSP00000339093.7:n.*2455G>A | |
| ENST00000382762.7:c.*2287G>A | ENSP00000372210.3:n.*2287G>A | |
| ENST00000410108.5:c.168+2596G>A | ENSP00000386558.1:n.168+2596G>A | |
| NM_001098787.1:c.*2287G>A | NP_001092257.1:n.*2287G>A | |
| NM_016526.4:c.*2455G>A | NP_057610.2:n.*2455G>A | |
| NM_001098787.2:c.*2287G>A MANE Select | NP_001092257.1:n.*2287G>A | |
| NM_016526.5:c.*2455G>A | NP_057610.2:n.*2455G>A |