Linked Data
ClinVar Variation Id:
316539
ClinVar RCV Id:
RCV000346282
dbSNP Id:
rs3088091
gnomAD v2:
15-53807540-G-A
gnomAD v3:
15-53515343-G-A
gnomAD v4:
15-53515343-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.53515343G>A , CM000677.2:g.53515343G>A | GRCh38 |
| NC_000015.9:g.53807540G>A , CM000677.1:g.53807540G>A | GRCh37 |
| NC_000015.8:g.51594832G>A | NCBI36 |
| NG_017034.2:g.249320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360509.10:c.*2356C>T MANE Select | ENSP00000353699.5:n.*2356C>T | |
| ENST00000360509.9:c.*2356C>T | ENSP00000353699.5:n.*2356C>T | |
| ENST00000396328.5:c.*2356C>T | ENSP00000379619.1:n.*2356C>T | |
| ENST00000557913.5:c.*2356C>T | ENSP00000453378.1:n.*2356C>T | |
| ENST00000567224.1:n.2731C>T | ||
| ENST00000614174.4:c.2623C>T | ENSP00000477754.1:n.2623C>T | |
| NM_001277176.1:c.*2356C>T | NP_001264105.1:n.*2356C>T | |
| NM_182758.3:c.*2356C>T | NP_877435.3:n.*2356C>T | |
| NR_102334.1:n.5905C>T | ||
| NR_102335.1:n.2731C>T | ||
| NR_102336.1:n.2708C>T | ||
| XM_011521433.1:c.*2356C>T | XP_011519735.1:n.*2356C>T | |
| XM_011521434.1:c.*2356C>T | XP_011519736.1:n.*2356C>T | |
| XM_011521435.1:c.*2356C>T | XP_011519737.1:n.*2356C>T | |
| XM_011521436.1:c.*2356C>T | XP_011519738.1:n.*2356C>T | |
| XM_011521437.1:c.*2356C>T | XP_011519739.1:n.*2356C>T | |
| XM_011521433.2:c.*2356C>T | XP_011519735.1:n.*2356C>T | |
| XM_011521435.2:c.*2356C>T | XP_011519737.1:n.*2356C>T | |
| XM_017022061.1:c.*2356C>T | XP_016877550.1:n.*2356C>T | |
| XR_001751551.1:n.1410+440G>A | ||
| XR_001751552.1:n.1489+440G>A | ||
| XR_001751553.1:n.1502+440G>A | ||
| NM_182758.4:c.*2356C>T MANE Select | NP_877435.3:n.*2356C>T | |
| NM_001277176.2:c.*2356C>T | NP_001264105.1:n.*2356C>T | |
| NR_102334.2:n.5905C>T | ||
| NR_102335.2:n.2731C>T |