Linked Data
ClinVar Variation Id:
223728
ClinVar RCV Id:
RCV000209650
dbSNP Id:
rs562880690
gnomAD v2:
5-138098330-G-T
gnomAD v3:
5-138762641-G-T
gnomAD v4:
5-138762641-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138762641G>T , CM000667.2:g.138762641G>T | GRCh38 |
| NC_000005.9:g.138098330G>T , CM000667.1:g.138098330G>T | GRCh37 |
| NC_000005.8:g.138126229G>T | NCBI36 |
| NG_047029.1:g.14246G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302763.12:c.-3+9131G>T MANE Select | ENSP00000304669.7:n.-3+9131G>T | |
| ENST00000302763.11:c.-3+9131G>T | ENSP00000304669.7:n.-3+9131G>T | |
| ENST00000517980.5:c.-2-19282G>T | ENSP00000428439.1:n.-2-19282G>T | |
| ENST00000518910.5:c.-9+9131G>T | ENSP00000430626.1:n.-9+9131G>T | |
| ENST00000519113.5:c.-3+8543G>T | ENSP00000430078.1:n.-3+8543G>T | |
| ENST00000519309.5:c.-3+9131G>T | ENSP00000430671.1:n.-3+9131G>T | |
| ENST00000520158.5:c.-3+8203G>T | ENSP00000429457.1:n.-3+8203G>T | |
| ENST00000520339.5:c.-3+7478G>T | ENSP00000428202.1:n.-3+7478G>T | |
| ENST00000521724.5:c.-3+9131G>T | ENSP00000431033.1:n.-3+9131G>T | |
| ENST00000522227.5:c.-2-19282G>T | ENSP00000429636.1:n.-2-19282G>T | |
| ENST00000523912.5:c.-3+9470G>T | ENSP00000430304.1:n.-3+9470G>T | |
| ENST00000524127.5:c.-2-19282G>T | ENSP00000428049.1:n.-2-19282G>T | |
| ENST00000627109.2:c.-3+9131G>T | ENSP00000486200.1:n.-3+9131G>T | |
| NM_001290307.1:c.-3+9131G>T | NP_001277236.1:n.-3+9131G>T | |
| NM_001290309.1:c.-116+9131G>T | NP_001277238.1:n.-116+9131G>T | |
| NM_001290310.1:c.-209+9131G>T | NP_001277239.1:n.-209+9131G>T | |
| NM_001903.3:c.-3+9131G>T | NP_001894.2:n.-3+9131G>T | |
| XM_006714536.2:c.-3+8543G>T | XP_006714599.1:n.-3+8543G>T | |
| XM_011543172.1:c.-3+7478G>T | XP_011541474.1:n.-3+7478G>T | |
| NM_001290307.2:c.-3+9131G>T | NP_001277236.1:n.-3+9131G>T | |
| NM_001290309.2:c.-116+9131G>T | NP_001277238.1:n.-116+9131G>T | |
| NM_001290310.2:c.-209+9131G>T | NP_001277239.1:n.-209+9131G>T | |
| NM_001323982.1:c.-3+7478G>T | NP_001310911.1:n.-3+7478G>T | |
| NM_001323983.1:c.-3+8543G>T | NP_001310912.1:n.-3+8543G>T | |
| NM_001323984.1:c.-3+7930G>T | NP_001310913.1:n.-3+7930G>T | |
| NM_001323985.1:c.-3+9131G>T | NP_001310914.1:n.-3+9131G>T | |
| NM_001323986.1:c.-3+9131G>T | NP_001310915.1:n.-3+9131G>T | |
| NM_001903.4:c.-3+9131G>T | NP_001894.2:n.-3+9131G>T | |
| NM_001903.5:c.-3+9131G>T MANE Select | NP_001894.2:n.-3+9131G>T | |
| NM_001290309.3:c.-116+9131G>T | NP_001277238.1:n.-116+9131G>T | |
| NM_001290310.3:c.-209+9131G>T | NP_001277239.1:n.-209+9131G>T | |
| NM_001323982.2:c.-3+7478G>T | NP_001310911.1:n.-3+7478G>T | |
| NM_001323984.2:c.-3+7930G>T | NP_001310913.1:n.-3+7930G>T | |
| NM_001323985.2:c.-3+9131G>T | NP_001310914.1:n.-3+9131G>T | |
| NM_001323986.2:c.-3+9131G>T | NP_001310915.1:n.-3+9131G>T | |
| NM_001290307.3:c.-3+9131G>T | NP_001277236.1:n.-3+9131G>T |