Linked Data
ClinVar Variation Id:
373456
dbSNP Id:
rs11254385
ExAC:
10:17171762 C / A
gnomAD v2:
10-17171762-C-A
gnomAD v3:
10-17129763-C-A
gnomAD v4:
10-17129763-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129763C>A , CM000672.2:g.17129763C>A | GRCh38 |
| NC_000010.10:g.17171762C>A , CM000672.1:g.17171762C>A | GRCh37 |
| NC_000010.9:g.17211768C>A | NCBI36 |
| NG_008967.1:g.5055G>T , LRG_540:g.5055G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.3G>T MANE Select | ENSP00000367064.4:p.Met1Ile | |
| ENST00000377823.1:c.3G>T | ENSP00000367054.1:p.Met1Ile | |
| ENST00000377833.8:c.3G>T | ENSP00000367064.4:p.Met1Ile | |
| NM_001081.3:c.3G>T , LRG_540t1:c.3G>T | NP_001072.2:p.Met1Ile | |
| XM_011519708.1:c.3G>T | XP_011518010.1:p.Met1Ile | |
| XM_011519708.2:c.3G>T | XP_011518010.1:p.Met1Ile | |
| NM_001081.4:c.3G>T MANE Select | NP_001072.2:p.Met1Ile |