Linked Data
dbSNP Id:
rs758251839
ExAC:
11:61161365 T / C
gnomAD v2:
11-61161365-T-C
gnomAD v4:
11-61393893-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393893T>C , CM000673.2:g.61393893T>C | GRCh38 |
| NC_000011.9:g.61161365T>C , CM000673.1:g.61161365T>C | GRCh37 |
| NC_000011.8:g.60917941T>C | NCBI36 |
| NG_032976.1:g.6534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.146T>C | ENSP00000334844.5:p.Leu49Pro | |
| ENST00000544795.6:n.423T>C | ||
| ENST00000684926.1:n.162T>C | ||
| ENST00000688959.1:c.-114T>C | ENSP00000509213.1:n.-114T>C | |
| ENST00000690736.1:c.146T>C | ENSP00000508542.1:p.Leu49Pro | |
| ENST00000515837.7:c.146T>C MANE Select | ENSP00000440638.1:p.Leu49Pro | |
| ENST00000334888.9:c.146T>C | ENSP00000334844.5:p.Leu49Pro | |
| ENST00000398979.7:c.-38T>C | ENSP00000381950.3:n.-38T>C | |
| ENST00000515837.6:c.146T>C | ENSP00000440638.1:p.Leu49Pro | |
| ENST00000541473.1:n.160T>C | ||
| ENST00000544795.5:n.162T>C | ||
| NM_001173990.2:c.146T>C | NP_001167461.1:p.Leu49Pro | |
| NM_001173991.2:c.146T>C | NP_001167462.1:p.Leu49Pro | |
| NM_016499.5:c.-38T>C | NP_057583.2:n.-38T>C | |
| XM_005274039.3:c.-38T>C | XP_005274096.1:n.-38T>C | |
| NM_001330285.1:c.-38T>C | NP_001317214.1:n.-38T>C | |
| XM_005274039.4:c.-38T>C | XP_005274096.1:n.-38T>C | |
| NM_001173990.3:c.146T>C MANE Select | NP_001167461.1:p.Leu49Pro | |
| NM_001173991.3:c.146T>C | NP_001167462.1:p.Leu49Pro | |
| NM_001330285.2:c.-38T>C | NP_001317214.1:n.-38T>C | |
| NM_016499.6:c.-38T>C | NP_057583.2:n.-38T>C |