gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74785026C>T , CM000677.2:g.74785026C>T | GRCh38 |
| NC_000015.9:g.75077367C>T , CM000677.1:g.75077367C>T | GRCh37 |
| NC_000015.8:g.72864420C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220003.14:c.-66+2306C>T MANE Select | ENSP00000220003.9:n.-66+2306C>T | |
| ENST00000220003.13:c.-66+2306C>T | ENSP00000220003.9:n.-66+2306C>T | |
| ENST00000439220.6:c.-66+2306C>T | ENSP00000414764.2:n.-66+2306C>T | |
| ENST00000563894.1:n.217+2306C>T | ||
| ENST00000567123.1:c.-223+2306C>T | ENSP00000457497.1:n.-223+2306C>T | |
| ENST00000569462.5:c.-87+2306C>T | ENSP00000457714.1:n.-87+2306C>T | |
| NM_001127190.1:c.-66+2306C>T | NP_001120662.1:n.-66+2306C>T | |
| NM_004383.2:c.-66+2306C>T | NP_004374.1:n.-66+2306C>T | |
| XM_005254165.3:c.-66+503C>T | XP_005254222.1:n.-66+503C>T | |
| NM_001127190.2:c.-66+2306C>T | NP_001120662.1:n.-66+2306C>T | |
| NM_001387089.1:c.-87+2306C>T | NP_001374018.1:n.-87+2306C>T | |
| NM_001387090.1:c.-66+503C>T | NP_001374019.1:n.-66+503C>T | |
| NM_001387091.1:c.-196+2306C>T | NP_001374020.1:n.-196+2306C>T | |
| NM_001387092.1:c.-87+2306C>T | NP_001374021.1:n.-87+2306C>T | |
| NM_001387093.1:c.-66+503C>T | NP_001374022.1:n.-66+503C>T | |
| NM_001387094.1:c.-66+2306C>T | NP_001374023.1:n.-66+2306C>T | |
| NM_001387095.1:c.-66+2306C>T | NP_001374024.1:n.-66+2306C>T | |
| NM_001387096.1:c.-66+2306C>T | NP_001374025.1:n.-66+2306C>T | |
| NM_001387097.1:c.-66+2306C>T | NP_001374026.1:n.-66+2306C>T | |
| NM_001387098.1:c.-66+2306C>T | NP_001374027.1:n.-66+2306C>T | |
| NM_004383.3:c.-66+2306C>T MANE Select | NP_004374.1:n.-66+2306C>T | |
| NR_170550.1:n.641+2306C>T |