Linked Data
dbSNP Id:
rs377324975
ExAC:
17:73517613 C / T
gnomAD v2:
17-73517613-C-T
gnomAD v3:
17-75521532-C-T
gnomAD v4:
17-75521532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521532C>T , CM000679.2:g.75521532C>T | GRCh38 |
| NC_000017.10:g.73517613C>T , CM000679.1:g.73517613C>T | GRCh37 |
| NC_000017.9:g.71029208C>T | NCBI36 |
| NG_013041.1:g.10005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.623+22C>T MANE Select | ENSP00000327487.6:n.623+22C>T | |
| ENST00000434205.8:c.320+22C>T | ENSP00000406559.4:n.320+22C>T | |
| ENST00000545228.3:c.623+22C>T | ENSP00000438169.3:n.623+22C>T | |
| ENST00000579449.2:n.422+22C>T | ||
| ENST00000580013.6:n.654C>T | ||
| ENST00000583818.2:c.677+22C>T | ENSP00000461928.2:n.677+22C>T | |
| ENST00000679370.1:n.1032C>T | ||
| ENST00000679429.1:c.*81+22C>T | ENSP00000505403.1:n.*81+22C>T | |
| ENST00000679443.1:n.520C>T | ||
| ENST00000679782.1:c.623+22C>T | ENSP00000505995.1:n.623+22C>T | |
| ENST00000679919.1:n.520C>T | ||
| ENST00000679928.1:c.*234+22C>T | ENSP00000506071.1:n.*234+22C>T | |
| ENST00000680528.1:n.648+22C>T | ||
| ENST00000680999.1:c.623+22C>T | ENSP00000504984.1:n.623+22C>T | |
| ENST00000681282.1:c.623+22C>T | ENSP00000506339.1:n.623+22C>T | |
| ENST00000333213.10:c.623+22C>T | ENSP00000327487.6:n.623+22C>T | |
| ENST00000578415.1:c.583+22C>T | ||
| ENST00000583173.5:c.458+22C>T | ENSP00000463619.1:n.458+22C>T | |
| ENST00000583818.1:c.572+22C>T | ENSP00000461928.1:n.572+22C>T | |
| NM_207346.2:c.623+22C>T | NP_997229.2:n.623+22C>T | |
| XM_005257229.2:c.623+22C>T | XP_005257286.1:n.623+22C>T | |
| XM_006721821.2:c.320+22C>T | XP_006721884.1:n.320+22C>T | |
| XM_011524616.1:c.623+22C>T | XP_011522918.1:n.623+22C>T | |
| XM_011524617.1:c.623+22C>T | XP_011522919.1:n.623+22C>T | |
| XM_011524618.1:c.623+22C>T | XP_011522920.1:n.623+22C>T | |
| XR_243646.2:n.653+22C>T | ||
| XM_005257229.4:c.623+22C>T | XP_005257286.1:n.623+22C>T | |
| XR_243646.4:n.659+22C>T | ||
| NM_207346.3:c.623+22C>T MANE Select | NP_997229.2:n.623+22C>T |