Linked Data
gnomAD v4:
22-27750797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750797A>G , CM000684.2:g.27750797A>G | GRCh38 |
| NC_000022.10:g.28146785A>G , CM000684.1:g.28146785A>G | GRCh37 |
| NC_000022.9:g.26476785A>G | NCBI36 |
| NG_023258.1:g.55702T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.606T>C | ||
| ENST00000302326.5:c.*118T>C MANE Select | ENSP00000304956.4:n.*118T>C | |
| ENST00000302326.4:c.*118T>C | ENSP00000304956.4:n.*118T>C | |
| ENST00000424656.1:c.434T>C | ||
| ENST00000497225.1:n.437T>C | ||
| NM_002430.2:c.*118T>C | NP_002421.3:n.*118T>C | |
| NM_002430.3:c.*118T>C MANE Select | NP_002421.3:n.*118T>C |