Linked Data
ClinVar Variation Id:
707600
ClinVar RCV Id:
RCV000878676
dbSNP Id:
rs201243902
ExAC:
15:33831546 T / C
gnomAD v2:
15-33831546-T-C
gnomAD v3:
15-33539345-T-C
gnomAD v4:
15-33539345-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33539345T>C , CM000677.2:g.33539345T>C | GRCh38 |
| NC_000015.9:g.33831546T>C , CM000677.1:g.33831546T>C | GRCh37 |
| NC_000015.8:g.31618838T>C | NCBI36 |
| NG_047076.1:g.233563T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634891.2:c.434-5T>C MANE Select | ENSP00000489262.1:n.434-5T>C | |
| ENST00000389232.9:c.434-5T>C | ENSP00000373884.5:n.434-5T>C | |
| ENST00000415757.7:c.434-5T>C | ENSP00000399610.3:n.434-5T>C | |
| ENST00000622037.1:c.434-5T>C | ENSP00000483166.1:n.434-5T>C | |
| ENST00000634418.1:c.434-5T>C | ENSP00000489529.1:n.434-5T>C | |
| ENST00000634891.1:c.434-5T>C | ENSP00000489262.1:n.434-5T>C | |
| NM_001036.4:c.434-5T>C | NP_001027.3:n.434-5T>C | |
| NM_001243996.2:c.434-5T>C | NP_001230925.1:n.434-5T>C | |
| XM_011521880.1:c.434-5T>C | XP_011520182.1:n.434-5T>C | |
| XM_011521880.2:c.434-5T>C | XP_011520182.1:n.434-5T>C | |
| XM_017022468.1:c.434-5T>C | XP_016877957.1:n.434-5T>C | |
| XM_017022469.1:c.434-5T>C | XP_016877958.1:n.434-5T>C | |
| XM_017022470.2:c.431-5T>C | XP_016877959.1:n.431-5T>C | |
| XM_017022471.1:c.434-5T>C | XP_016877960.1:n.434-5T>C | |
| XM_017022472.1:c.434-5T>C | XP_016877961.1:n.434-5T>C | |
| XM_017022473.1:c.434-5T>C | XP_016877962.1:n.434-5T>C | |
| XM_017022474.1:c.413-5T>C | XP_016877963.1:n.413-5T>C | |
| XM_017022475.1:c.434-5T>C | XP_016877964.1:n.434-5T>C | |
| XM_017022476.1:c.326-5T>C | XP_016877965.1:n.326-5T>C | |
| XM_017022477.1:c.434-5T>C | XP_016877966.1:n.434-5T>C | |
| XM_024450015.1:c.434-5T>C | XP_024305783.1:n.434-5T>C | |
| XM_024450016.1:c.434-5T>C | XP_024305784.1:n.434-5T>C | |
| XR_001751369.1:n.706-5T>C | ||
| XR_001751370.1:n.706-5T>C | ||
| XR_001751371.2:n.706-5T>C | ||
| NM_001036.5:c.434-5T>C | NP_001027.3:n.434-5T>C | |
| NM_001243996.3:c.434-5T>C | NP_001230925.1:n.434-5T>C | |
| NM_001036.6:c.434-5T>C MANE Select | NP_001027.3:n.434-5T>C | |
| NM_001243996.4:c.434-5T>C | NP_001230925.1:n.434-5T>C |