Linked Data
ClinVar Variation Id:
2962639
ClinVar RCV Id:
RCV003827749
dbSNP Id:
rs773133464
ExAC:
17:73513627 C / T
gnomAD v2:
17-73513627-C-T
gnomAD v4:
17-75517546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75517546C>T , CM000679.2:g.75517546C>T | GRCh38 |
| NC_000017.10:g.73513627C>T , CM000679.1:g.73513627C>T | GRCh37 |
| NC_000017.9:g.71025222C>T | NCBI36 |
| NG_013041.1:g.6019C>T | |
| NG_033152.1:g.3038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.370-11C>T MANE Select | ENSP00000327487.6:n.370-11C>T | |
| ENST00000434205.8:c.67-11C>T | ENSP00000406559.4:n.67-11C>T | |
| ENST00000545228.3:c.370-11C>T | ENSP00000438169.3:n.370-11C>T | |
| ENST00000579449.2:n.169-11C>T | ||
| ENST00000580013.6:n.379-11C>T | ||
| ENST00000583818.2:c.370-11C>T | ENSP00000461928.2:n.370-11C>T | |
| ENST00000679370.1:n.757-11C>T | ||
| ENST00000679429.1:c.370-11C>T | ENSP00000505403.1:n.370-11C>T | |
| ENST00000679443.1:n.245-11C>T | ||
| ENST00000679782.1:c.370-11C>T | ENSP00000505995.1:n.370-11C>T | |
| ENST00000679919.1:n.245-11C>T | ||
| ENST00000679928.1:c.370-11C>T | ENSP00000506071.1:n.370-11C>T | |
| ENST00000680528.1:n.395-11C>T | ||
| ENST00000680999.1:c.370-11C>T | ENSP00000504984.1:n.370-11C>T | |
| ENST00000681282.1:c.370-11C>T | ENSP00000506339.1:n.370-11C>T | |
| ENST00000333213.10:c.370-11C>T | ENSP00000327487.6:n.370-11C>T | |
| ENST00000434205.7:c.67-11C>T | ENSP00000406559.3:n.67-11C>T | |
| ENST00000578415.1:c.330-11C>T | ||
| ENST00000580013.5:n.395-11C>T | ||
| ENST00000583173.5:c.205-11C>T | ENSP00000463619.1:n.205-11C>T | |
| ENST00000583634.1:n.188-11C>T | ||
| ENST00000583818.1:c.265-11C>T | ENSP00000461928.1:n.265-11C>T | |
| NM_207346.2:c.370-11C>T | NP_997229.2:n.370-11C>T | |
| XM_005257229.2:c.370-11C>T | XP_005257286.1:n.370-11C>T | |
| XM_006721821.2:c.67-11C>T | XP_006721884.1:n.67-11C>T | |
| XM_011524616.1:c.370-11C>T | XP_011522918.1:n.370-11C>T | |
| XM_011524617.1:c.370-11C>T | XP_011522919.1:n.370-11C>T | |
| XM_011524618.1:c.370-11C>T | XP_011522920.1:n.370-11C>T | |
| XR_243646.2:n.400-11C>T | ||
| XM_005257229.4:c.370-11C>T | XP_005257286.1:n.370-11C>T | |
| XR_243646.4:n.406-11C>T | ||
| NM_207346.3:c.370-11C>T MANE Select | NP_997229.2:n.370-11C>T |