Linked Data
ClinVar Variation Id:
1384199
ClinVar RCV Id:
RCV001924773
dbSNP Id:
rs1385660656
gnomAD v2:
17-73513152-C-T
gnomAD v3:
17-75517071-C-T
gnomAD v4:
17-75517071-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75517071C>T , CM000679.2:g.75517071C>T | GRCh38 |
| NC_000017.10:g.73513152C>T , CM000679.1:g.73513152C>T | GRCh37 |
| NC_000017.9:g.71024747C>T | NCBI36 |
| NG_013041.1:g.5544C>T | |
| NG_033152.1:g.3513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.284C>T MANE Select | ENSP00000327487.6:p.Ala95Val | |
| ENST00000434205.8:c.-20C>T | ENSP00000406559.4:n.-20C>T | |
| ENST00000545228.3:c.284C>T | ENSP00000438169.3:p.Ala95Val | |
| ENST00000579449.2:n.83C>T | ||
| ENST00000580013.6:n.293C>T | ||
| ENST00000583818.2:c.284C>T | ENSP00000461928.2:p.Ala95Val | |
| ENST00000679370.1:n.671C>T | ||
| ENST00000679429.1:c.284C>T | ENSP00000505403.1:p.Ala95Val | |
| ENST00000679443.1:n.159C>T | ||
| ENST00000679782.1:c.284C>T | ENSP00000505995.1:p.Ala95Val | |
| ENST00000679919.1:n.159C>T | ||
| ENST00000679928.1:c.284C>T | ENSP00000506071.1:p.Ala95Val | |
| ENST00000680528.1:n.309C>T | ||
| ENST00000680999.1:c.284C>T | ENSP00000504984.1:p.Ala95Val | |
| ENST00000681282.1:c.284C>T | ENSP00000506339.1:p.Ala95Val | |
| ENST00000333213.10:c.284C>T | ENSP00000327487.6:p.Ala95Val | |
| ENST00000434205.7:c.-20C>T | ENSP00000406559.3:n.-20C>T | |
| ENST00000578415.1:c.156C>T | ||
| ENST00000580013.5:n.309C>T | ||
| ENST00000583173.5:c.119C>T | ENSP00000463619.1:p.Ala40Val | |
| ENST00000583454.1:n.417C>T | ||
| ENST00000583634.1:n.102C>T | ||
| ENST00000583818.1:c.179C>T | ENSP00000461928.1:p.Ala60Val | |
| NM_207346.2:c.284C>T | NP_997229.2:p.Ala95Val | |
| XM_005257229.2:c.284C>T | XP_005257286.1:p.Ala95Val | |
| XM_006721821.2:c.-20C>T | XP_006721884.1:n.-20C>T | |
| XM_011524616.1:c.284C>T | XP_011522918.1:p.Ala95Val | |
| XM_011524617.1:c.284C>T | XP_011522919.1:p.Ala95Val | |
| XM_011524618.1:c.284C>T | XP_011522920.1:p.Ala95Val | |
| XR_243646.2:n.314C>T | ||
| XM_005257229.4:c.284C>T | XP_005257286.1:p.Ala95Val | |
| XR_243646.4:n.320C>T | ||
| NM_207346.3:c.284C>T MANE Select | NP_997229.2:p.Ala95Val |