Linked Data
ClinVar Variation Id:
164110
dbSNP Id:
rs727503200
ExAC:
11:47364213 T / C
gnomAD v2:
11-47364213-T-C
gnomAD v3:
11-47342662-T-C
gnomAD v4:
11-47342662-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342662T>C , CM000673.2:g.47342662T>C | GRCh38 |
| NC_000011.9:g.47364213T>C , CM000673.1:g.47364213T>C | GRCh37 |
| NC_000011.8:g.47320789T>C | NCBI36 |
| NG_007667.1:g.15041A>G , LRG_386:g.15041A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1540A>G MANE Select | ENSP00000442795.1:p.Ile514Val | |
| ENST00000256993.8:c.1540A>G | ENSP00000256993.5:p.Ile514Val | |
| ENST00000399249.6:c.1540A>G | ENSP00000382193.2:p.Ile514Val | |
| ENST00000544791.1:c.1540A>G | ENSP00000444259.1:p.Ile514Val | |
| ENST00000545968.5:c.1540A>G | ENSP00000442795.1:p.Ile514Val | |
| NM_000256.3:c.1540A>G , LRG_386t1:c.1540A>G MANE Select | NP_000247.2:p.Ile514Val | |
| XM_011520117.1:c.1522A>G | XP_011518419.1:p.Ile508Val | |
| XM_011520118.1:c.1540A>G | XP_011518420.1:p.Ile514Val |