Linked Data
dbSNP Id:
rs893511503
gnomAD v2:
17-73517780-C-G
gnomAD v3:
17-75521699-C-G
gnomAD v4:
17-75521699-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521699C>G , CM000679.2:g.75521699C>G | GRCh38 |
| NC_000017.10:g.73517780C>G , CM000679.1:g.73517780C>G | GRCh37 |
| NC_000017.9:g.71029375C>G | NCBI36 |
| NG_013041.1:g.10172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.624-6C>G MANE Select | ENSP00000327487.6:n.624-6C>G | |
| ENST00000434205.8:c.321-6C>G | ENSP00000406559.4:n.321-6C>G | |
| ENST00000545228.3:c.624-6C>G | ENSP00000438169.3:n.624-6C>G | |
| ENST00000579449.2:n.423-6C>G | ||
| ENST00000580013.6:n.821C>G | ||
| ENST00000583818.2:c.678-6C>G | ENSP00000461928.2:n.678-6C>G | |
| ENST00000679370.1:n.1199C>G | ||
| ENST00000679429.1:c.*82-6C>G | ENSP00000505403.1:n.*82-6C>G | |
| ENST00000679443.1:n.687C>G | ||
| ENST00000679782.1:c.624-6C>G | ENSP00000505995.1:n.624-6C>G | |
| ENST00000679919.1:n.687C>G | ||
| ENST00000679928.1:c.*235-6C>G | ENSP00000506071.1:n.*235-6C>G | |
| ENST00000680528.1:n.649-6C>G | ||
| ENST00000680999.1:c.624-6C>G | ENSP00000504984.1:n.624-6C>G | |
| ENST00000681282.1:c.647C>G | ENSP00000506339.1:p.Pro216Arg | |
| ENST00000333213.10:c.624-6C>G | ENSP00000327487.6:n.624-6C>G | |
| ENST00000578415.1:c.584-6C>G | ||
| ENST00000583173.5:c.458+189C>G | ENSP00000463619.1:n.458+189C>G | |
| ENST00000583818.1:c.573-6C>G | ENSP00000461928.1:n.573-6C>G | |
| NM_207346.2:c.624-6C>G | NP_997229.2:n.624-6C>G | |
| XM_005257229.2:c.624-6C>G | XP_005257286.1:n.624-6C>G | |
| XM_006721821.2:c.321-6C>G | XP_006721884.1:n.321-6C>G | |
| XM_011524616.1:c.624-6C>G | XP_011522918.1:n.624-6C>G | |
| XM_011524617.1:c.624-6C>G | XP_011522919.1:n.624-6C>G | |
| XM_011524618.1:c.624-6C>G | XP_011522920.1:n.624-6C>G | |
| XR_243646.2:n.654-6C>G | ||
| XM_005257229.4:c.624-6C>G | XP_005257286.1:n.624-6C>G | |
| XR_243646.4:n.660-6C>G | ||
| NM_207346.3:c.624-6C>G MANE Select | NP_997229.2:n.624-6C>G |