gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77829003 (SAS)
Genomes Max Group AF
0.77829003 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69328086C>T , CM000671.2:g.69328086C>T | GRCh38 |
| NC_000009.11:g.71943002C>T , CM000671.1:g.71943002C>T | GRCh37 |
| NC_000009.10:g.71132822C>T | NCBI36 |
| NG_052888.1:g.8515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303068.14:c.414+2363C>T MANE Select | ENSP00000304435.8:n.414+2363C>T | |
| ENST00000303068.13:c.414+2363C>T | ENSP00000304435.8:n.414+2363C>T | |
| ENST00000377216.4:c.-46+3456C>T | ENSP00000366422.4:n.-46+3456C>T | |
| ENST00000455972.6:c.-46+3456C>T | ENSP00000395675.1:n.-46+3456C>T | |
| ENST00000455972.5:c.-46+3456C>T | ENSP00000395675.1:n.-46+3456C>T | |
| NM_001127608.1:c.-46+3456C>T | NP_001121080.1:n.-46+3456C>T | |
| XM_005252307.3:c.414+2363C>T | XP_005252364.1:n.414+2363C>T | |
| NM_001127608.2:c.-46+3456C>T | NP_001121080.1:n.-46+3456C>T | |
| NM_001347995.1:c.414+2363C>T | NP_001334924.1:n.414+2363C>T | |
| XM_017015324.1:c.84+2363C>T | XP_016870813.1:n.84+2363C>T | |
| XM_017015325.1:c.-46+3456C>T | XP_016870814.1:n.-46+3456C>T | |
| XR_001746421.1:n.59+3456C>T | ||
| NM_001127608.3:c.-46+3456C>T | NP_001121080.1:n.-46+3456C>T | |
| NM_001347995.2:c.414+2363C>T MANE Select | NP_001334924.1:n.414+2363C>T | |
| NR_170669.1:n.50+3456C>T |