Linked Data
dbSNP Id:
rs182889980
gnomAD v2:
7-44189011-G-C
gnomAD v3:
7-44149412-G-C
gnomAD v4:
7-44149412-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149412G>C , CM000669.2:g.44149412G>C | GRCh38 |
| NC_000007.13:g.44189011G>C , CM000669.1:g.44189011G>C | GRCh37 |
| NC_000007.12:g.44155536G>C | NCBI36 |
| NG_008847.1:g.45012C>G | |
| NG_008847.2:g.53759C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*677+348C>G | ENSP00000379142.4:n.*677+348C>G | |
| ENST00000616242.5:c.679+348C>G | ENSP00000482149.2:n.679+348C>G | |
| ENST00000682635.1:n.1513C>G | ||
| ENST00000345378.7:c.682+348C>G | ENSP00000223366.2:n.682+348C>G | |
| ENST00000403799.8:c.679+348C>G MANE Select | ENSP00000384247.3:n.679+348C>G | |
| ENST00000671824.1:c.679+348C>G | ENSP00000500264.1:n.679+348C>G | |
| ENST00000673284.1:c.679+348C>G | ENSP00000499852.1:n.679+348C>G | |
| ENST00000345378.6:c.682+348C>G | ENSP00000223366.2:n.682+348C>G | |
| ENST00000395796.7:c.676+348C>G | ENSP00000379142.3:n.676+348C>G | |
| ENST00000403799.7:c.679+348C>G | ENSP00000384247.3:n.679+348C>G | |
| ENST00000437084.1:c.628+348C>G | ENSP00000402840.1:n.628+348C>G | |
| ENST00000616242.4:c.676+348C>G | ENSP00000482149.1:n.676+348C>G | |
| NM_000162.3:c.679+348C>G | NP_000153.1:n.679+348C>G | |
| NM_033507.1:c.682+348C>G | NP_277042.1:n.682+348C>G | |
| NM_033508.1:c.676+348C>G | NP_277043.1:n.676+348C>G | |
| XR_927223.1:n.203+121G>C | ||
| NM_000162.4:c.679+348C>G | NP_000153.1:n.679+348C>G | |
| NM_001354800.1:c.679+348C>G | NP_001341729.1:n.679+348C>G | |
| NM_033507.2:c.682+348C>G | NP_277042.1:n.682+348C>G | |
| NM_033508.2:c.676+348C>G | NP_277043.1:n.676+348C>G | |
| XR_927223.2:n.203+121G>C | ||
| NM_000162.5:c.679+348C>G MANE Select | NP_000153.1:n.679+348C>G | |
| NM_033507.3:c.682+348C>G | NP_277042.1:n.682+348C>G | |
| NM_033508.3:c.676+348C>G | NP_277043.1:n.676+348C>G |