Linked Data
ClinVar Variation Id:
3054282
ClinVar RCV Id:
RCV004540770
dbSNP Id:
rs369060712
ExAC:
11:61160076 G / T
gnomAD v2:
11-61160076-G-T
gnomAD v3:
11-61392604-G-T
gnomAD v4:
11-61392604-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392604G>T , CM000673.2:g.61392604G>T | GRCh38 |
| NC_000011.9:g.61160076G>T , CM000673.1:g.61160076G>T | GRCh37 |
| NC_000011.8:g.60916652G>T | NCBI36 |
| NG_032976.1:g.5245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.-28G>T | ENSP00000334844.5:n.-28G>T | |
| ENST00000544795.6:n.18G>T | ||
| ENST00000690736.1:c.-28G>T | ENSP00000508542.1:n.-28G>T | |
| ENST00000515837.7:c.-28G>T MANE Select | ENSP00000440638.1:n.-28G>T | |
| ENST00000334888.9:c.-28G>T | ENSP00000334844.5:n.-28G>T | |
| ENST00000398979.7:c.-225G>T | ENSP00000381950.3:n.-225G>T | |
| ENST00000515837.6:c.-28G>T | ENSP00000440638.1:n.-28G>T | |
| NM_001173990.2:c.-28G>T | NP_001167461.1:n.-28G>T | |
| NM_001173991.2:c.-28G>T | NP_001167462.1:n.-28G>T | |
| NM_016499.5:c.-225G>T | NP_057583.2:n.-225G>T | |
| XM_005274039.3:c.-359G>T | XP_005274096.1:n.-359G>T | |
| NM_001330285.1:c.-225G>T | NP_001317214.1:n.-225G>T | |
| XM_005274039.4:c.-359G>T | XP_005274096.1:n.-359G>T | |
| NM_001173990.3:c.-28G>T MANE Select | NP_001167461.1:n.-28G>T | |
| NM_001173991.3:c.-28G>T | NP_001167462.1:n.-28G>T | |
| NM_001330285.2:c.-225G>T | NP_001317214.1:n.-225G>T | |
| NM_016499.6:c.-225G>T | NP_057583.2:n.-225G>T |