Linked Data
ClinVar Variation Id:
862816
dbSNP Id:
rs141909277
ExAC:
8:11615858 G / A
gnomAD v2:
8-11615858-G-A
gnomAD v3:
8-11758349-G-A
gnomAD v4:
8-11758349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11758349G>A , CM000670.2:g.11758349G>A | GRCh38 |
| NC_000008.10:g.11615858G>A , CM000670.1:g.11615858G>A | GRCh37 |
| NC_000008.9:g.11653267G>A | NCBI36 |
| NG_008177.2:g.86431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.1203G>A | ENSP00000482268.2:p.Ser401= | |
| ENST00000532059.6:c.1206G>A MANE Select | ENSP00000435712.1:p.Ser402= | |
| ENST00000335135.8:c.1203G>A | ENSP00000334458.4:p.Ser401= | |
| ENST00000526021.1:n.648G>A | ||
| ENST00000528712.5:c.585G>A | ENSP00000435043.1:p.Ser195= | |
| ENST00000532059.5:c.1206G>A | ENSP00000435712.1:p.Ser402= | |
| ENST00000622443.2:c.1200G>A | ENSP00000482268.1:p.Ser400= | |
| NM_001308093.1:c.1206G>A | NP_001295022.1:p.Ser402= | |
| NM_001308094.1:c.585G>A | NP_001295023.1:p.Ser195= | |
| NM_002052.3:c.1203G>A | NP_002043.2:p.Ser401= | |
| NM_002052.4:c.1203G>A | NP_002043.2:p.Ser401= | |
| XM_005272385.3:c.1206G>A | XP_005272442.1:p.Ser402= | |
| XM_005272386.1:c.1206G>A | XP_005272443.1:p.Ser402= | |
| XM_006716248.1:c.1206G>A | XP_006716311.1:p.Ser402= | |
| XM_011543817.1:c.1206G>A | XP_011542119.1:p.Ser402= | |
| XM_011543818.1:c.1206G>A | XP_011542120.1:p.Ser402= | |
| XM_005272385.4:c.1206G>A | XP_005272442.1:p.Ser402= | |
| XM_011543817.3:c.1206G>A | XP_011542119.1:p.Ser402= | |
| XM_011543818.2:c.1206G>A | XP_011542120.1:p.Ser402= | |
| XM_017013312.2:c.1206G>A | XP_016868801.1:p.Ser402= | |
| NM_001308093.3:c.1206G>A MANE Select | NP_001295022.1:p.Ser402= | |
| NM_001308094.2:c.585G>A | NP_001295023.1:p.Ser195= | |
| NM_001374273.1:c.585G>A | NP_001361202.1:p.Ser195= | |
| NM_001374274.1:c.459G>A | NP_001361203.1:p.Ser153= | |
| NM_002052.5:c.1203G>A | NP_002043.2:p.Ser401= |