Linked Data
ClinVar Variation Id:
436091
dbSNP Id:
rs368772032
ExAC:
15:28096627 G / C
gnomAD v2:
15-28096627-G-C
gnomAD v4:
15-27851481-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851481G>C , CM000677.2:g.27851481G>C | GRCh38 |
| NC_000015.9:g.28096627G>C , CM000677.1:g.28096627G>C | GRCh37 |
| NC_000015.8:g.25770222G>C | NCBI36 |
| NG_009846.1:g.252832C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2245-6C>G MANE Select | ENSP00000346659.3:n.2245-6C>G | |
| ENST00000353809.9:c.2173-6C>G | ENSP00000261276.8:n.2173-6C>G | |
| ENST00000354638.7:c.2245-6C>G | ENSP00000346659.3:n.2245-6C>G | |
| NM_000275.2:c.2245-6C>G | NP_000266.2:n.2245-6C>G | |
| NM_001300984.1:c.2173-6C>G | NP_001287913.1:n.2173-6C>G | |
| XM_011521639.1:c.2311-6C>G | XP_011519941.1:n.2311-6C>G | |
| XM_011521640.1:c.2287-6C>G | XP_011519942.1:n.2287-6C>G | |
| XM_011521641.1:c.2269-6C>G | XP_011519943.1:n.2269-6C>G | |
| XM_011521642.1:c.2239-6C>G | XP_011519944.1:n.2239-6C>G | |
| XM_011521643.1:c.2197-6C>G | XP_011519945.1:n.2197-6C>G | |
| XM_011521644.1:c.2173-6C>G | XP_011519946.1:n.2173-6C>G | |
| XM_011521645.1:c.2104-6C>G | XP_011519947.1:n.2104-6C>G | |
| XM_011521640.2:c.2287-6C>G | XP_011519942.1:n.2287-6C>G | |
| XM_017022255.1:c.2311-6C>G | XP_016877744.1:n.2311-6C>G | |
| XM_017022256.1:c.2269-6C>G | XP_016877745.1:n.2269-6C>G | |
| XM_017022257.1:c.2239-6C>G | XP_016877746.1:n.2239-6C>G | |
| XM_017022258.1:c.2269-6C>G | XP_016877747.1:n.2269-6C>G | |
| XM_017022259.1:c.2197-6C>G | XP_016877748.1:n.2197-6C>G | |
| XM_017022260.1:c.2173-6C>G | XP_016877749.1:n.2173-6C>G | |
| XM_017022261.1:c.2116-6C>G | XP_016877750.1:n.2116-6C>G | |
| XM_017022262.1:c.2268+19673C>G | XP_016877751.1:n.2268+19673C>G | |
| XM_017022263.1:c.2104-6C>G | XP_016877752.1:n.2104-6C>G | |
| XM_017022264.1:c.2104-6C>G | XP_016877753.1:n.2104-6C>G | |
| NM_000275.3:c.2245-6C>G MANE Select | NP_000266.2:n.2245-6C>G | |
| NM_001300984.2:c.2173-6C>G | NP_001287913.1:n.2173-6C>G |