Linked Data
ClinVar Variation Id:
305081
dbSNP Id:
rs749351351
ExAC:
11:61165436 T / C
gnomAD v2:
11-61165436-T-C
gnomAD v3:
11-61397964-T-C
gnomAD v4:
11-61397964-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61397964T>C , CM000673.2:g.61397964T>C | GRCh38 |
| NC_000011.9:g.61165436T>C , CM000673.1:g.61165436T>C | GRCh37 |
| NC_000011.8:g.60922012T>C | NCBI36 |
| NG_032976.1:g.10605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.420T>C | ENSP00000334844.5:p.Ala140= | |
| ENST00000544795.6:n.743T>C | ||
| ENST00000684926.1:n.482T>C | ||
| ENST00000688959.1:c.162T>C | ENSP00000509213.1:p.Ala54= | |
| ENST00000690736.1:c.*145T>C | ENSP00000508542.1:n.*145T>C | |
| ENST00000515837.7:c.420T>C MANE Select | ENSP00000440638.1:p.Ala140= | |
| ENST00000334888.9:c.420T>C | ENSP00000334844.5:p.Ala140= | |
| ENST00000398979.7:c.237T>C | ENSP00000381950.3:p.Ala79= | |
| ENST00000515837.6:c.420T>C | ENSP00000440638.1:p.Ala140= | |
| ENST00000544795.5:n.482T>C | ||
| NM_001173990.2:c.420T>C | NP_001167461.1:p.Ala140= | |
| NM_001173991.2:c.420T>C | NP_001167462.1:p.Ala140= | |
| NM_016499.5:c.237T>C | NP_057583.2:p.Ala79= | |
| XM_005274039.3:c.237T>C | XP_005274096.1:p.Ala79= | |
| NM_001330285.1:c.237T>C | NP_001317214.1:p.Ala79= | |
| XM_005274039.4:c.237T>C | XP_005274096.1:p.Ala79= | |
| NM_001173990.3:c.420T>C MANE Select | NP_001167461.1:p.Ala140= | |
| NM_001173991.3:c.420T>C | NP_001167462.1:p.Ala140= | |
| NM_001330285.2:c.237T>C | NP_001317214.1:p.Ala79= | |
| NM_016499.6:c.237T>C | NP_057583.2:p.Ala79= |