Linked Data
ClinVar Variation Id:
66424
dbSNP Id:
rs11558961
ExAC:
17:42984687 G / C
gnomAD v2:
17-42984687-G-C
gnomAD v3:
17-44907319-G-C
gnomAD v4:
17-44907319-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44907319G>C , CM000679.2:g.44907319G>C | GRCh38 |
| NC_000017.10:g.42984687G>C , CM000679.1:g.42984687G>C | GRCh37 |
| NC_000017.9:g.40340213G>C | NCBI36 |
| NG_008401.1:g.13228C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.*28C>G | ENSP00000253408.5:n.*28C>G | |
| ENST00000253408.10:c.*28C>G | ENSP00000253408.5:n.*28C>G | |
| ENST00000441312.2:n.110+745C>G | ||
| ENST00000585543.6:n.480C>G | ||
| ENST00000586125.2:c.937C>G | ENSP00000467397.2:n.937C>G | |
| ENST00000588735.3:c.*28C>G MANE Select | ENSP00000466598.2:n.*28C>G | |
| ENST00000589701.2:n.2234C>G | ||
| ENST00000591880.2:c.1101C>G | ||
| ENST00000592065.2:n.625+745C>G | ||
| ENST00000638304.1:c.176+745C>G | ||
| ENST00000638400.1:c.92+745C>G | ||
| ENST00000638488.1:n.721+745C>G | ||
| ENST00000638618.1:c.912+745C>G | ENSP00000492832.1:n.912+745C>G | |
| ENST00000638921.1:n.929C>G | ||
| ENST00000639042.1:c.229+745C>G | ||
| ENST00000639243.1:c.13+745C>G | ||
| ENST00000639277.1:c.1257+745C>G | ENSP00000492432.1:n.1257+745C>G | |
| ENST00000639369.1:c.107+745C>G | ||
| ENST00000640545.1:c.63+745C>G | ENSP00000491735.1:n.63+745C>G | |
| ENST00000640859.1:c.71+745C>G | ||
| ENST00000253408.9:c.*28C>G | ENSP00000253408.4:n.*28C>G | |
| ENST00000585543.5:n.480C>G | ||
| ENST00000588735.1:c.*28C>G | ENSP00000466598.1:n.*28C>G | |
| ENST00000589701.1:n.229C>G | ||
| ENST00000592065.1:n.51+745C>G | ||
| ENST00000592706.5:n.199C>G | ||
| NM_002055.4:c.*28C>G | NP_002046.1:n.*28C>G | |
| NM_001363846.1:c.*28C>G | NP_001350775.1:n.*28C>G | |
| XM_024450690.1:c.*28C>G | XP_024306458.1:n.*28C>G | |
| XM_024450692.1:c.*28C>G | XP_024306460.1:n.*28C>G | |
| NM_002055.5:c.*28C>G MANE Select | NP_002046.1:n.*28C>G | |
| NM_001363846.2:c.*28C>G | NP_001350775.1:n.*28C>G |