Linked Data
gnomAD v4:
22-27751054-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751054C>G , CM000684.2:g.27751054C>G | GRCh38 |
| NC_000022.10:g.28147042C>G , CM000684.1:g.28147042C>G | GRCh37 |
| NC_000022.9:g.26477042C>G | NCBI36 |
| NG_023258.1:g.55445G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.349G>C | ||
| ENST00000302326.5:c.3824G>C MANE Select | ENSP00000304956.4:p.Gly1275Ala | |
| ENST00000302326.4:c.3824G>C | ENSP00000304956.4:p.Gly1275Ala | |
| ENST00000424656.1:c.177G>C | ||
| ENST00000497225.1:n.180G>C | ||
| NM_002430.2:c.3824G>C | NP_002421.3:p.Gly1275Ala | |
| NM_002430.3:c.3824G>C MANE Select | NP_002421.3:p.Gly1275Ala |