Linked Data
dbSNP Id:
rs993270061
gnomAD v2:
2-215674433-G-C
gnomAD v3:
2-214809709-G-C
gnomAD v4:
2-214809709-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214809709G>C , CM000664.2:g.214809709G>C | GRCh38 |
| NC_000002.11:g.215674433G>C , CM000664.1:g.215674433G>C | GRCh37 |
| NC_000002.10:g.215382678G>C | NCBI36 |
| NG_012047.2:g.4996C>G | |
| NG_012047.3:g.5003C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613374.4:c.-140C>G | ENSP00000484464.1:n.-140C>G | |
| ENST00000613706.4:c.-140C>G | ENSP00000484976.1:n.-140C>G | |
| ENST00000617164.4:c.-140C>G | ENSP00000480470.1:n.-140C>G | |
| ENST00000619009.4:c.-140C>G | ENSP00000482293.1:n.-140C>G | |
| NM_000465.3:c.-140C>G | NP_000456.2:n.-140C>G | |
| NM_001282543.1:c.-140C>G | NP_001269472.1:n.-140C>G | |
| NM_001282545.1:c.-140C>G | NP_001269474.1:n.-140C>G | |
| NM_001282548.1:c.-140C>G | NP_001269477.1:n.-140C>G | |
| NM_001282549.1:c.-140C>G | NP_001269478.1:n.-140C>G | |
| NR_104212.1:n.3C>G | ||
| NR_104215.1:n.3C>G | ||
| NR_104216.1:n.3C>G | ||
| XM_011511568.1:c.-140C>G | XP_011509870.1:n.-140C>G |