Linked Data
ClinVar Variation Id:
279898
dbSNP Id:
rs201269335
ExAC:
5:147481003 A / T
gnomAD v2:
5-147481003-A-T
gnomAD v3:
5-148101440-A-T
gnomAD v4:
5-148101440-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148101440A>T , CM000667.2:g.148101440A>T | GRCh38 |
| NC_000005.9:g.147481003A>T , CM000667.1:g.147481003A>T | GRCh37 |
| NC_000005.8:g.147461196A>T | NCBI36 |
| NG_009633.1:g.42469A>T , LRG_110:g.42469A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481286.6:n.911+4A>T | ||
| ENST00000256084.8:c.1302+4A>T MANE Select | ENSP00000256084.7:n.1302+4A>T | |
| ENST00000256084.7:c.1302+4A>T | ENSP00000256084.7:n.1302+4A>T | |
| ENST00000359874.7:c.1302+4A>T | ENSP00000352936.3:n.1302+4A>T | |
| ENST00000398454.5:c.1302+4A>T | ENSP00000381472.1:n.1302+4A>T | |
| ENST00000507988.5:n.1466+4A>T | ||
| ENST00000508733.5:c.1245+4A>T | ENSP00000421519.1:n.1245+4A>T | |
| NM_001127698.1:c.1302+4A>T | NP_001121170.1:n.1302+4A>T | |
| NM_001127699.1:c.1302+4A>T | NP_001121171.1:n.1302+4A>T | |
| NM_006846.3:c.1302+4A>T , LRG_110t1:c.1302+4A>T | NP_006837.2:n.1302+4A>T | |
| XM_011537550.1:c.1245+4A>T | XP_011535852.1:n.1245+4A>T | |
| XM_011537551.1:c.1218+4A>T | XP_011535853.1:n.1218+4A>T | |
| XM_011537551.2:c.1218+4A>T | XP_011535853.1:n.1218+4A>T | |
| NM_001127698.2:c.1302+4A>T | NP_001121170.1:n.1302+4A>T | |
| NM_001127699.2:c.1302+4A>T | NP_001121171.1:n.1302+4A>T | |
| NM_006846.4:c.1302+4A>T MANE Select | NP_006837.2:n.1302+4A>T |