Linked Data
dbSNP Id:
rs780134650
ExAC:
2:29293516 C / G
gnomAD v2:
2-29293516-C-G
gnomAD v4:
2-29070650-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070650C>G , CM000664.2:g.29070650C>G | GRCh38 |
| NC_000002.11:g.29293516C>G , CM000664.1:g.29293516C>G | GRCh37 |
| NC_000002.10:g.29147020C>G | NCBI36 |
| NG_021427.1:g.8612G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3612G>C MANE Select | ENSP00000332809.4:p.Gln1204His | |
| ENST00000331664.5:c.3612G>C | ENSP00000332809.4:p.Gln1204His | |
| NM_001029883.2:c.3612G>C | NP_001025054.1:p.Gln1204His | |
| XM_011532826.1:c.3612G>C | XP_011531128.1:p.Gln1204His | |
| XR_939901.1:n.185+1483C>G | ||
| XR_939902.1:n.173+1495C>G | ||
| NM_001029883.3:c.3612G>C MANE Select | NP_001025054.1:p.Gln1204His |