Linked Data
dbSNP Id:
rs1452928
gnomAD v2:
11-84822321-G-C
gnomAD v3:
11-85111277-G-C
gnomAD v4:
11-85111277-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.85111277G>C , CM000673.2:g.85111277G>C | GRCh38 |
| NC_000011.9:g.84822321G>C , CM000673.1:g.84822321G>C | GRCh37 |
| NC_000011.8:g.84499969G>C | NCBI36 |
| NG_021375.1:g.520994C>G | |
| NG_021375.2:g.522259C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527088.2:c.105+384C>G | ENSP00000435809.2:n.105+384C>G | |
| ENST00000705960.1:n.714+384C>G | ||
| ENST00000706006.1:c.468+384C>G | ENSP00000516200.1:n.468+384C>G | |
| ENST00000706007.1:c.*271+43279C>G | ENSP00000516201.1:n.*271+43279C>G | |
| ENST00000706226.1:c.393+43279C>G | ENSP00000516284.1:n.393+43279C>G | |
| ENST00000706233.1:c.393+43279C>G | ENSP00000516288.1:n.393+43279C>G | |
| ENST00000376104.7:c.357+384C>G MANE Select | ENSP00000365272.2:n.357+384C>G | |
| ENST00000650630.1:c.468+384C>G | ENSP00000497771.1:n.468+384C>G | |
| ENST00000376104.6:c.357+384C>G | ENSP00000365272.2:n.357+384C>G | |
| ENST00000527088.1:c.105+384C>G | ENSP00000435809.1:n.105+384C>G | |
| NM_001142699.1:c.357+384C>G | NP_001136171.1:n.357+384C>G | |
| XM_011544778.1:c.507+384C>G | XP_011543080.1:n.507+384C>G | |
| XM_011544779.1:c.468+384C>G | XP_011543081.1:n.468+384C>G | |
| XM_011544780.1:c.507+384C>G | XP_011543082.1:n.507+384C>G | |
| XM_011544781.1:c.432+43279C>G | XP_011543083.1:n.432+43279C>G | |
| XM_011544782.1:c.105+384C>G | XP_011543084.1:n.105+384C>G | |
| XM_011544785.1:c.30+21491C>G | XP_011543087.1:n.30+21491C>G | |
| XM_011544786.1:c.507+384C>G | XP_011543088.1:n.507+384C>G | |
| NM_001351274.1:c.393+43279C>G | NP_001338203.1:n.393+43279C>G | |
| NM_001351275.1:c.393+43279C>G | NP_001338204.1:n.393+43279C>G | |
| XM_011544778.3:c.507+384C>G | XP_011543080.1:n.507+384C>G | |
| XM_011544780.3:c.507+384C>G | XP_011543082.1:n.507+384C>G | |
| XM_011544782.2:c.105+384C>G | XP_011543084.1:n.105+384C>G | |
| XM_017017254.2:c.507+384C>G | XP_016872743.1:n.507+384C>G | |
| XM_017017255.2:c.468+384C>G | XP_016872744.1:n.468+384C>G | |
| XM_017017256.2:c.468+384C>G | XP_016872745.1:n.468+384C>G | |
| XM_017017257.2:c.468+384C>G | XP_016872746.1:n.468+384C>G | |
| XM_017017258.1:c.345+384C>G | XP_016872747.1:n.345+384C>G | |
| XM_017017261.2:c.507+384C>G | XP_016872750.1:n.507+384C>G | |
| XM_017017263.1:c.105+384C>G | XP_016872752.1:n.105+384C>G | |
| XM_017017269.1:c.30+21491C>G | XP_016872758.1:n.30+21491C>G | |
| XM_017017270.1:c.105+384C>G | XP_016872759.1:n.105+384C>G | |
| XM_017017276.1:c.30+21491C>G | XP_016872765.1:n.30+21491C>G | |
| XM_017017279.1:c.105+384C>G | XP_016872768.1:n.105+384C>G | |
| XM_017017280.2:c.105+384C>G | XP_016872769.1:n.105+384C>G | |
| XM_017017285.1:c.30+21491C>G | XP_016872774.1:n.30+21491C>G | |
| XM_024448378.1:c.393+43279C>G | XP_024304146.1:n.393+43279C>G | |
| XM_024448379.1:c.393+43279C>G | XP_024304147.1:n.393+43279C>G | |
| NM_001351274.2:c.393+43279C>G | NP_001338203.1:n.393+43279C>G | |
| NM_001142699.3:c.357+384C>G MANE Select | NP_001136171.1:n.357+384C>G | |
| NM_001351275.2:c.393+43279C>G | NP_001338204.1:n.393+43279C>G |