Linked Data
ClinVar Variation Id:
2029323
ClinVar RCV Id:
RCV002880765
dbSNP Id:
rs749611054
ExAC:
11:47355289 A / C
gnomAD v2:
11-47355289-A-C
gnomAD v4:
11-47333738-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333738A>C , CM000673.2:g.47333738A>C | GRCh38 |
| NC_000011.9:g.47355289A>C , CM000673.1:g.47355289A>C | GRCh37 |
| NC_000011.8:g.47311865A>C | NCBI36 |
| NG_007667.1:g.23965T>G , LRG_386:g.23965T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3009T>G MANE Select | ENSP00000442795.1:p.Pro1003= | |
| ENST00000256993.8:c.3009T>G | ENSP00000256993.5:p.Pro1003= | |
| ENST00000399249.6:c.3009T>G | ENSP00000382193.2:p.Pro1003= | |
| ENST00000545968.5:c.3009T>G | ENSP00000442795.1:p.Pro1003= | |
| NM_000256.3:c.3009T>G , LRG_386t1:c.3009T>G MANE Select | NP_000247.2:p.Pro1003= | |
| XM_011520117.1:c.2991T>G | XP_011518419.1:p.Pro997= | |
| XM_011520118.1:c.2928T>G | XP_011518420.1:p.Pro976= |