Linked Data
dbSNP Id:
rs1355863452
gnomAD v2:
11-61161392-T-A
gnomAD v3:
11-61393920-T-A
gnomAD v4:
11-61393920-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393920T>A , CM000673.2:g.61393920T>A | GRCh38 |
| NC_000011.9:g.61161392T>A , CM000673.1:g.61161392T>A | GRCh37 |
| NC_000011.8:g.60917968T>A | NCBI36 |
| NG_032976.1:g.6561T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.173T>A | ENSP00000334844.5:p.Leu58Gln | |
| ENST00000544795.6:n.450T>A | ||
| ENST00000684926.1:n.189T>A | ||
| ENST00000688959.1:c.-87T>A | ENSP00000509213.1:n.-87T>A | |
| ENST00000690736.1:c.173T>A | ENSP00000508542.1:p.Leu58Gln | |
| ENST00000515837.7:c.173T>A MANE Select | ENSP00000440638.1:p.Leu58Gln | |
| ENST00000334888.9:c.173T>A | ENSP00000334844.5:p.Leu58Gln | |
| ENST00000398979.7:c.-11T>A | ENSP00000381950.3:n.-11T>A | |
| ENST00000515837.6:c.173T>A | ENSP00000440638.1:p.Leu58Gln | |
| ENST00000541473.1:n.187T>A | ||
| ENST00000544795.5:n.189T>A | ||
| NM_001173990.2:c.173T>A | NP_001167461.1:p.Leu58Gln | |
| NM_001173991.2:c.173T>A | NP_001167462.1:p.Leu58Gln | |
| NM_016499.5:c.-11T>A | NP_057583.2:n.-11T>A | |
| XM_005274039.3:c.-11T>A | XP_005274096.1:n.-11T>A | |
| NM_001330285.1:c.-11T>A | NP_001317214.1:n.-11T>A | |
| XM_005274039.4:c.-11T>A | XP_005274096.1:n.-11T>A | |
| NM_001173990.3:c.173T>A MANE Select | NP_001167461.1:p.Leu58Gln | |
| NM_001173991.3:c.173T>A | NP_001167462.1:p.Leu58Gln | |
| NM_001330285.2:c.-11T>A | NP_001317214.1:n.-11T>A | |
| NM_016499.6:c.-11T>A | NP_057583.2:n.-11T>A |