Linked Data
ClinVar Variation Id:
223754
ClinVar RCV Id:
RCV000209741
dbSNP Id:
rs116111509
gnomAD v2:
5-138105958-G-A
gnomAD v3:
5-138770269-G-A
gnomAD v4:
5-138770269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138770269G>A , CM000667.2:g.138770269G>A | GRCh38 |
| NC_000005.9:g.138105958G>A , CM000667.1:g.138105958G>A | GRCh37 |
| NC_000005.8:g.138133857G>A | NCBI36 |
| NG_047029.1:g.21874G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302763.12:c.-2-11654G>A MANE Select | ENSP00000304669.7:n.-2-11654G>A | |
| ENST00000302763.11:c.-2-11654G>A | ENSP00000304669.7:n.-2-11654G>A | |
| ENST00000517980.5:c.-2-11654G>A | ENSP00000428439.1:n.-2-11654G>A | |
| ENST00000518910.5:c.-9+16759G>A | ENSP00000430626.1:n.-9+16759G>A | |
| ENST00000519113.5:c.-2-11654G>A | ENSP00000430078.1:n.-2-11654G>A | |
| ENST00000519309.5:c.-2-11654G>A | ENSP00000430671.1:n.-2-11654G>A | |
| ENST00000520158.5:c.-2-11654G>A | ENSP00000429457.1:n.-2-11654G>A | |
| ENST00000520339.5:c.-2-11654G>A | ENSP00000428202.1:n.-2-11654G>A | |
| ENST00000521724.5:c.-2-11654G>A | ENSP00000431033.1:n.-2-11654G>A | |
| ENST00000522227.5:c.-2-11654G>A | ENSP00000429636.1:n.-2-11654G>A | |
| ENST00000523912.5:c.-2-11654G>A | ENSP00000430304.1:n.-2-11654G>A | |
| ENST00000524127.5:c.-2-11654G>A | ENSP00000428049.1:n.-2-11654G>A | |
| ENST00000627109.2:c.-2-11654G>A | ENSP00000486200.1:n.-2-11654G>A | |
| NM_001290307.1:c.-2-11654G>A | NP_001277236.1:n.-2-11654G>A | |
| NM_001290309.1:c.-115-11654G>A | NP_001277238.1:n.-115-11654G>A | |
| NM_001290310.1:c.-208-11654G>A | NP_001277239.1:n.-208-11654G>A | |
| NM_001903.3:c.-2-11654G>A | NP_001894.2:n.-2-11654G>A | |
| XM_006714536.2:c.-2-11654G>A | XP_006714599.1:n.-2-11654G>A | |
| XM_011543172.1:c.-2-11654G>A | XP_011541474.1:n.-2-11654G>A | |
| NM_001290307.2:c.-2-11654G>A | NP_001277236.1:n.-2-11654G>A | |
| NM_001290309.2:c.-115-11654G>A | NP_001277238.1:n.-115-11654G>A | |
| NM_001290310.2:c.-208-11654G>A | NP_001277239.1:n.-208-11654G>A | |
| NM_001323982.1:c.-2-11654G>A | NP_001310911.1:n.-2-11654G>A | |
| NM_001323983.1:c.-2-11654G>A | NP_001310912.1:n.-2-11654G>A | |
| NM_001323984.1:c.-2-11654G>A | NP_001310913.1:n.-2-11654G>A | |
| NM_001323985.1:c.-2-11654G>A | NP_001310914.1:n.-2-11654G>A | |
| NM_001323986.1:c.-2-11654G>A | NP_001310915.1:n.-2-11654G>A | |
| NM_001903.4:c.-2-11654G>A | NP_001894.2:n.-2-11654G>A | |
| NM_001903.5:c.-2-11654G>A MANE Select | NP_001894.2:n.-2-11654G>A | |
| NM_001290309.3:c.-115-11654G>A | NP_001277238.1:n.-115-11654G>A | |
| NM_001290310.3:c.-208-11654G>A | NP_001277239.1:n.-208-11654G>A | |
| NM_001323982.2:c.-2-11654G>A | NP_001310911.1:n.-2-11654G>A | |
| NM_001323984.2:c.-2-11654G>A | NP_001310913.1:n.-2-11654G>A | |
| NM_001323985.2:c.-2-11654G>A | NP_001310914.1:n.-2-11654G>A | |
| NM_001323986.2:c.-2-11654G>A | NP_001310915.1:n.-2-11654G>A | |
| NM_001290307.3:c.-2-11654G>A | NP_001277236.1:n.-2-11654G>A |