Linked Data
ClinVar Variation Id:
516126
dbSNP Id:
rs143219149
ExAC:
11:128786515 C / T
gnomAD v2:
11-128786515-C-T
gnomAD v3:
11-128916620-C-T
gnomAD v4:
11-128916620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128916620C>T , CM000673.2:g.128916620C>T | GRCh38 |
| NC_000011.9:g.128786515C>T , CM000673.1:g.128786515C>T | GRCh37 |
| NC_000011.8:g.128291725C>T | NCBI36 |
| NG_023406.2:g.30203C>T , LRG_333:g.30203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529694.6:c.1149C>T MANE Select | ENSP00000433295.1:p.Pro383= | |
| ENST00000338350.4:c.1149C>T | ENSP00000339960.4:p.Pro383= | |
| ENST00000529694.5:c.1149C>T | ENSP00000433295.1:p.Pro383= | |
| ENST00000533599.1:c.1149C>T | ENSP00000434266.1:p.Pro383= | |
| NM_000890.3:c.1149C>T , LRG_333t1:c.1149C>T | NP_000881.3:p.Pro383= | |
| XM_011542809.1:c.1149C>T | XP_011541111.1:p.Pro383= | |
| XM_011542810.1:c.1149C>T | XP_011541112.1:p.Pro383= | |
| NM_000890.4:c.1149C>T | NP_000881.3:p.Pro383= | |
| NM_001354169.1:c.1149C>T | NP_001341098.1:p.Pro383= | |
| XM_011542809.2:c.1149C>T | XP_011541111.1:p.Pro383= | |
| XM_011542810.3:c.1149C>T | XP_011541112.1:p.Pro383= | |
| NM_000890.5:c.1149C>T MANE Select | NP_000881.3:p.Pro383= | |
| NM_001354169.2:c.1149C>T | NP_001341098.1:p.Pro383= |