gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1696421C>T , CM000674.2:g.1696421C>T | GRCh38 |
| NC_000012.11:g.1805587C>T , CM000674.1:g.1805587C>T | GRCh37 |
| NC_000012.10:g.1675848C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.-87+5230C>T MANE Select | ENSP00000349616.4:n.-87+5230C>T | |
| ENST00000357103.4:c.-87+5230C>T | ENSP00000349616.4:n.-87+5230C>T | |
| ENST00000537545.1:n.144+7704C>T | ||
| ENST00000540974.1:n.51+5208C>T | ||
| ENST00000603687.1:n.1421-33G>A | ||
| NM_024551.2:c.-87+5230C>T | NP_078827.2:n.-87+5230C>T | |
| XM_005253789.1:c.-87+5208C>T | XP_005253846.1:n.-87+5208C>T | |
| XM_006719018.1:c.-184+5230C>T | XP_006719081.1:n.-184+5230C>T | |
| XM_011521024.1:c.-184+5208C>T | XP_011519326.1:n.-184+5208C>T | |
| XM_011521025.1:c.-87+5208C>T | XP_011519327.1:n.-87+5208C>T | |
| XM_005253789.2:c.-87+5208C>T | XP_005253846.1:n.-87+5208C>T | |
| XM_006719018.2:c.-184+5230C>T | XP_006719081.1:n.-184+5230C>T | |
| XM_011521024.2:c.-184+5208C>T | XP_011519326.1:n.-184+5208C>T | |
| NM_024551.3:c.-87+5230C>T MANE Select | NP_078827.2:n.-87+5230C>T | |
| NM_001375363.1:c.-87+5230C>T | NP_001362292.1:n.-87+5230C>T | |
| NM_001375364.1:c.-249+5208C>T | NP_001362293.1:n.-249+5208C>T | |
| NM_001375365.1:c.-87+5208C>T | NP_001362294.1:n.-87+5208C>T |