Linked Data
dbSNP Id:
rs2168518
ExAC:
15:75081078 G / A
gnomAD v2:
15-75081078-G-A
gnomAD v3:
15-74788737-G-A
gnomAD v4:
15-74788737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74788737G>A , CM000677.2:g.74788737G>A | GRCh38 |
| NC_000015.9:g.75081078G>A , CM000677.1:g.75081078G>A | GRCh37 |
| NC_000015.8:g.72868131G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220003.14:c.-66+6017G>A (CSK) MANE Select | ENSP00000220003.9:n.-66+6017G>A | |
| ENST00000220003.13:c.-66+6017G>A (CSK) | ENSP00000220003.9:n.-66+6017G>A | |
| ENST00000439220.6:c.-66+6017G>A (CSK) | ENSP00000414764.2:n.-66+6017G>A | |
| ENST00000563894.1:n.217+6017G>A (CSK) | ||
| ENST00000567123.1:c.-223+6017G>A (CSK) | ENSP00000457497.1:n.-223+6017G>A | |
| ENST00000567571.5:c.-399+160G>A (CSK) | ENSP00000454906.1:n.-399+160G>A | |
| ENST00000569462.5:c.-87+6017G>A (CSK) | ENSP00000457714.1:n.-87+6017G>A | |
| NM_001127190.1:c.-66+6017G>A (CSK) | NP_001120662.1:n.-66+6017G>A | |
| NM_004383.2:c.-66+6017G>A (CSK) | NP_004374.1:n.-66+6017G>A | |
| NR_039738.1:n.21C>T (MIR4513) | ||
| XM_005254165.3:c.-66+4214G>A (CSK) | XP_005254222.1:n.-66+4214G>A | |
| NM_001354988.1:c.-399+160G>A (CSK) | NP_001341917.1:n.-399+160G>A | |
| NM_001127190.2:c.-66+6017G>A (CSK) | NP_001120662.1:n.-66+6017G>A | |
| NM_001354988.2:c.-399+160G>A (CSK) | NP_001341917.1:n.-399+160G>A | |
| NM_001387089.1:c.-87+6017G>A (CSK) | NP_001374018.1:n.-87+6017G>A | |
| NM_001387090.1:c.-66+4214G>A (CSK) | NP_001374019.1:n.-66+4214G>A | |
| NM_001387091.1:c.-195-2080G>A (CSK) | NP_001374020.1:n.-195-2080G>A | |
| NM_001387092.1:c.-87+6017G>A (CSK) | NP_001374021.1:n.-87+6017G>A | |
| NM_001387093.1:c.-66+4214G>A (CSK) | NP_001374022.1:n.-66+4214G>A | |
| NM_001387094.1:c.-66+6017G>A (CSK) | NP_001374023.1:n.-66+6017G>A | |
| NM_001387095.1:c.-66+6017G>A (CSK) | NP_001374024.1:n.-66+6017G>A | |
| NM_001387096.1:c.-66+6017G>A (CSK) | NP_001374025.1:n.-66+6017G>A | |
| NM_001387097.1:c.-66+6017G>A (CSK) | NP_001374026.1:n.-66+6017G>A | |
| NM_001387098.1:c.-66+6017G>A (CSK) | NP_001374027.1:n.-66+6017G>A | |
| NM_004383.3:c.-66+6017G>A (CSK) MANE Select | NP_004374.1:n.-66+6017G>A | |
| NR_170550.1:n.641+6017G>A (CSK) |