Linked Data
ClinVar Variation Id:
520379
dbSNP Id:
rs397516009
ExAC:
11:47354846 C / A
gnomAD v2:
11-47354846-C-A
gnomAD v3:
11-47333295-C-A
gnomAD v4:
11-47333295-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333295C>A , CM000673.2:g.47333295C>A | GRCh38 |
| NC_000011.9:g.47354846C>A , CM000673.1:g.47354846C>A | GRCh37 |
| NC_000011.8:g.47311422C>A | NCBI36 |
| NG_007667.1:g.24408G>T , LRG_386:g.24408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3229G>T MANE Select | ENSP00000442795.1:p.Ala1077Ser | |
| ENST00000256993.8:c.3229G>T | ENSP00000256993.5:p.Ala1077Ser | |
| ENST00000399249.6:c.3229G>T | ENSP00000382193.2:p.Ala1077Ser | |
| ENST00000545968.5:c.3229G>T | ENSP00000442795.1:p.Ala1077Ser | |
| NM_000256.3:c.3229G>T , LRG_386t1:c.3229G>T MANE Select | NP_000247.2:p.Ala1077Ser | |
| XM_011520117.1:c.3211G>T | XP_011518419.1:p.Ala1071Ser | |
| XM_011520118.1:c.3148G>T | XP_011518420.1:p.Ala1050Ser |