Linked Data
ClinVar Variation Id:
260332
dbSNP Id:
rs201296334
ExAC:
8:116430543 G / T
gnomAD v2:
8-116430543-G-T
gnomAD v3:
8-115418315-G-T
gnomAD v4:
8-115418315-G-T
COSMIC:
COSN7663906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115418315G>T , CM000670.2:g.115418315G>T | GRCh38 |
| NC_000008.10:g.116430543G>T , CM000670.1:g.116430543G>T | GRCh37 |
| NC_000008.9:g.116499719G>T | NCBI36 |
| NG_012383.3:g.255687C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.2823+15C>A MANE Select | ENSP00000379065.3:n.2823+15C>A | |
| ENST00000640765.1:c.2784+15C>A | ENSP00000492037.1:n.2784+15C>A | |
| ENST00000220888.9:c.2784+15C>A | ENSP00000220888.5:n.2784+15C>A | |
| ENST00000395715.7:c.2823+15C>A | ENSP00000379065.3:n.2823+15C>A | |
| ENST00000518018.1:c.157+15C>A | ||
| ENST00000519076.5:c.2046+15C>A | ENSP00000428910.1:n.2046+15C>A | |
| ENST00000520276.5:c.2796+15C>A | ENSP00000428680.1:n.2796+15C>A | |
| NM_001282902.2:c.2796+15C>A | NP_001269831.1:n.2796+15C>A | |
| NM_001282903.2:c.2802+15C>A | NP_001269832.1:n.2802+15C>A | |
| NM_014112.4:c.2823+15C>A | NP_054831.2:n.2823+15C>A | |
| XM_005251049.2:c.2784+15C>A | XP_005251106.1:n.2784+15C>A | |
| XM_006716625.1:c.2823+15C>A | XP_006716688.1:n.2823+15C>A | |
| XM_011517264.1:c.2823+15C>A | XP_011515566.1:n.2823+15C>A | |
| XM_011517265.1:c.2823+15C>A | XP_011515567.1:n.2823+15C>A | |
| XM_011517266.1:c.2823+15C>A | XP_011515568.1:n.2823+15C>A | |
| XM_011517267.1:c.2802+15C>A | XP_011515569.1:n.2802+15C>A | |
| XM_011517268.1:c.2784+15C>A | XP_011515570.1:n.2784+15C>A | |
| NM_001330599.1:c.2784+15C>A | NP_001317528.1:n.2784+15C>A | |
| XM_011517264.2:c.2823+15C>A | XP_011515566.1:n.2823+15C>A | |
| XM_011517266.3:c.2823+15C>A | XP_011515568.1:n.2823+15C>A | |
| XM_011517268.2:c.2784+15C>A | XP_011515570.1:n.2784+15C>A | |
| NM_001282902.3:c.2796+15C>A | NP_001269831.1:n.2796+15C>A | |
| NM_001282903.3:c.2802+15C>A | NP_001269832.1:n.2802+15C>A | |
| NM_001330599.2:c.2784+15C>A | NP_001317528.1:n.2784+15C>A | |
| NM_014112.5:c.2823+15C>A MANE Select | NP_054831.2:n.2823+15C>A |