Linked Data
dbSNP Id:
rs763901956
ExAC:
17:73517748 C / G
gnomAD v2:
17-73517748-C-G
gnomAD v4:
17-75521667-C-G
MyVariant Identifiers:
chr17:g.73517748C>G (hg19)
chr17:g.73517748_73517749delinsGA (hg19)
chr17:g.75521667C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521667C>G , CM000679.2:g.75521667C>G | GRCh38 |
| NC_000017.10:g.73517748C>G , CM000679.1:g.73517748C>G | GRCh37 |
| NC_000017.9:g.71029343C>G | NCBI36 |
| NG_013041.1:g.10140C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.624-38C>G MANE Select | ENSP00000327487.6:n.624-38C>G | |
| ENST00000434205.8:c.321-38C>G | ENSP00000406559.4:n.321-38C>G | |
| ENST00000545228.3:c.624-38C>G | ENSP00000438169.3:n.624-38C>G | |
| ENST00000579449.2:n.423-38C>G | ||
| ENST00000580013.6:n.789C>G | ||
| ENST00000583818.2:c.678-38C>G | ENSP00000461928.2:n.678-38C>G | |
| ENST00000679370.1:n.1167C>G | ||
| ENST00000679429.1:c.*82-38C>G | ENSP00000505403.1:n.*82-38C>G | |
| ENST00000679443.1:n.655C>G | ||
| ENST00000679782.1:c.624-38C>G | ENSP00000505995.1:n.624-38C>G | |
| ENST00000679919.1:n.655C>G | ||
| ENST00000679928.1:c.*235-38C>G | ENSP00000506071.1:n.*235-38C>G | |
| ENST00000680528.1:n.649-38C>G | ||
| ENST00000680999.1:c.624-38C>G | ENSP00000504984.1:n.624-38C>G | |
| ENST00000681282.1:c.624-9C>G | ENSP00000506339.1:n.624-9C>G | |
| ENST00000333213.10:c.624-38C>G | ENSP00000327487.6:n.624-38C>G | |
| ENST00000578415.1:c.584-38C>G | ||
| ENST00000583173.5:c.458+157C>G | ENSP00000463619.1:n.458+157C>G | |
| ENST00000583818.1:c.573-38C>G | ENSP00000461928.1:n.573-38C>G | |
| NM_207346.2:c.624-38C>G | NP_997229.2:n.624-38C>G | |
| XM_005257229.2:c.624-38C>G | XP_005257286.1:n.624-38C>G | |
| XM_006721821.2:c.321-38C>G | XP_006721884.1:n.321-38C>G | |
| XM_011524616.1:c.624-38C>G | XP_011522918.1:n.624-38C>G | |
| XM_011524617.1:c.624-38C>G | XP_011522919.1:n.624-38C>G | |
| XM_011524618.1:c.624-38C>G | XP_011522920.1:n.624-38C>G | |
| XR_243646.2:n.654-38C>G | ||
| XM_005257229.4:c.624-38C>G | XP_005257286.1:n.624-38C>G | |
| XR_243646.4:n.660-38C>G | ||
| NM_207346.3:c.624-38C>G MANE Select | NP_997229.2:n.624-38C>G |