Linked Data
ClinVar Variation Id:
261577
dbSNP Id:
rs2277608
ExAC:
15:74476340 G / C
gnomAD v2:
15-74476340-G-C
gnomAD v3:
15-74183999-G-C
gnomAD v4:
15-74183999-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74183999G>C , CM000677.2:g.74183999G>C | GRCh38 |
| NC_000015.9:g.74476340G>C , CM000677.1:g.74476340G>C | GRCh37 |
| NC_000015.8:g.72263393G>C | NCBI36 |
| NG_009207.1:g.30032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395105.9:c.1167-10C>G MANE Select | ENSP00000378537.4:n.1167-10C>G | |
| ENST00000323940.9:c.1167-10C>G | ENSP00000326085.5:n.1167-10C>G | |
| ENST00000395105.8:c.1167-10C>G | ENSP00000378537.4:n.1167-10C>G | |
| ENST00000416286.7:c.1143-10C>G | ENSP00000400403.3:n.1143-10C>G | |
| ENST00000423167.6:c.1140-10C>G | ENSP00000413012.2:n.1140-10C>G | |
| ENST00000449139.6:c.1167-10C>G | ENSP00000410221.2:n.1167-10C>G | |
| ENST00000535552.5:c.1278-10C>G | ENSP00000440238.1:n.1278-10C>G | |
| ENST00000545137.5:n.876-10C>G | ||
| ENST00000563965.5:c.1284-10C>G | ENSP00000456609.1:n.1284-10C>G | |
| ENST00000569936.5:c.1297-10C>G | ENSP00000461799.1:n.1297-10C>G | |
| ENST00000572785.1:c.195+981C>G | ||
| ENST00000574278.5:c.1212-10C>G | ENSP00000458827.1:n.1212-10C>G | |
| ENST00000574439.5:n.1439-10C>G | ||
| ENST00000616000.4:c.1167-10C>G | ENSP00000479112.1:n.1167-10C>G | |
| NM_001142617.1:c.1167-10C>G | NP_001136089.1:n.1167-10C>G | |
| NM_001142618.1:c.1167-10C>G | NP_001136090.1:n.1167-10C>G | |
| NM_001142619.1:c.1140-10C>G | NP_001136091.1:n.1140-10C>G | |
| NM_001199040.1:c.1278-10C>G | NP_001185969.1:n.1278-10C>G | |
| NM_001199041.1:c.1212-10C>G | NP_001185970.1:n.1212-10C>G | |
| NM_001199042.1:c.1284-10C>G | NP_001185971.1:n.1284-10C>G | |
| NM_022369.3:c.1167-10C>G | NP_071764.3:n.1167-10C>G | |
| XM_011521883.1:c.1167-10C>G | XP_011520185.1:n.1167-10C>G | |
| XM_011521884.1:c.978-10C>G | XP_011520186.1:n.978-10C>G | |
| XR_931877.1:n.1290-10C>G | ||
| XM_017022478.1:c.1215-10C>G | XP_016877967.1:n.1215-10C>G | |
| XM_017022479.1:c.1167-10C>G | XP_016877968.1:n.1167-10C>G | |
| XM_017022480.1:c.978-10C>G | XP_016877969.1:n.978-10C>G | |
| XR_931877.2:n.1290-10C>G | ||
| NM_022369.4:c.1167-10C>G MANE Select | NP_071764.3:n.1167-10C>G | |
| NM_001142617.2:c.1167-10C>G | NP_001136089.1:n.1167-10C>G | |
| NM_001142619.2:c.1140-10C>G | NP_001136091.1:n.1140-10C>G | |
| NM_001199042.2:c.1284-10C>G | NP_001185971.1:n.1284-10C>G | |
| NM_001142618.2:c.1167-10C>G | NP_001136090.1:n.1167-10C>G | |
| NM_001199040.2:c.1278-10C>G | NP_001185969.1:n.1278-10C>G | |
| NM_001199041.2:c.1212-10C>G | NP_001185970.1:n.1212-10C>G |