Linked Data
dbSNP Id:
rs1296219100
gnomAD v2:
2-219678931-G-C
gnomAD v3:
2-218814208-G-C
gnomAD v4:
2-218814208-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814208G>C , CM000664.2:g.218814208G>C | GRCh38 |
| NC_000002.11:g.219678931G>C , CM000664.1:g.219678931G>C | GRCh37 |
| NC_000002.10:g.219387175G>C | NCBI36 |
| NG_007959.1:g.37460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+21G>C MANE Select | ENSP00000258415.4:n.1184+21G>C | |
| ENST00000258415.8:c.1184+21G>C | ENSP00000258415.4:n.1184+21G>C | |
| ENST00000494263.5:n.1639G>C | ||
| NM_000784.3:c.1184+21G>C | NP_000775.1:n.1184+21G>C | |
| XM_017003488.2:c.764+21G>C | XP_016858977.1:n.764+21G>C | |
| NM_000784.4:c.1184+21G>C MANE Select | NP_000775.1:n.1184+21G>C |