Linked Data
ClinVar Variation Id:
3012035
ClinVar RCV Id:
RCV003873098
dbSNP Id:
rs566250675
ExAC:
15:28096565 C / T
gnomAD v2:
15-28096565-C-T
gnomAD v3:
15-27851419-C-T
gnomAD v4:
15-27851419-C-T
COSMIC:
COSM3386814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851419C>T , CM000677.2:g.27851419C>T | GRCh38 |
| NC_000015.9:g.28096565C>T , CM000677.1:g.28096565C>T | GRCh37 |
| NC_000015.8:g.25770160C>T | NCBI36 |
| NG_009846.1:g.252894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2301G>A MANE Select | ENSP00000346659.3:p.Pro767= | |
| ENST00000353809.9:c.2229G>A | ENSP00000261276.8:p.Pro743= | |
| ENST00000354638.7:c.2301G>A | ENSP00000346659.3:p.Pro767= | |
| NM_000275.2:c.2301G>A | NP_000266.2:p.Pro767= | |
| NM_001300984.1:c.2229G>A | NP_001287913.1:p.Pro743= | |
| XM_011521639.1:c.2367G>A | XP_011519941.1:p.Pro789= | |
| XM_011521640.1:c.2343G>A | XP_011519942.1:p.Pro781= | |
| XM_011521641.1:c.2325G>A | XP_011519943.1:p.Pro775= | |
| XM_011521642.1:c.2295G>A | XP_011519944.1:p.Pro765= | |
| XM_011521643.1:c.2253G>A | XP_011519945.1:p.Pro751= | |
| XM_011521644.1:c.2229G>A | XP_011519946.1:p.Pro743= | |
| XM_011521645.1:c.2160G>A | XP_011519947.1:p.Pro720= | |
| XM_011521640.2:c.2343G>A | XP_011519942.1:p.Pro781= | |
| XM_017022255.1:c.2367G>A | XP_016877744.1:p.Pro789= | |
| XM_017022256.1:c.2325G>A | XP_016877745.1:p.Pro775= | |
| XM_017022257.1:c.2295G>A | XP_016877746.1:p.Pro765= | |
| XM_017022258.1:c.2325G>A | XP_016877747.1:p.Pro775= | |
| XM_017022259.1:c.2253G>A | XP_016877748.1:p.Pro751= | |
| XM_017022260.1:c.2229G>A | XP_016877749.1:p.Pro743= | |
| XM_017022261.1:c.2172G>A | XP_016877750.1:p.Pro724= | |
| XM_017022262.1:c.2268+19735G>A | XP_016877751.1:n.2268+19735G>A | |
| XM_017022263.1:c.2160G>A | XP_016877752.1:p.Pro720= | |
| XM_017022264.1:c.2160G>A | XP_016877753.1:p.Pro720= | |
| NM_000275.3:c.2301G>A MANE Select | NP_000266.2:p.Pro767= | |
| NM_001300984.2:c.2229G>A | NP_001287913.1:p.Pro743= |