Linked Data
ClinVar Variation Id:
135822
dbSNP Id:
rs144890720
ExAC:
12:58145379 T / C
gnomAD v2:
12-58145379-T-C
gnomAD v3:
12-57751596-T-C
gnomAD v4:
12-57751596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751596T>C , CM000674.2:g.57751596T>C | GRCh38 |
| NC_000012.11:g.58145379T>C , CM000674.1:g.58145379T>C | GRCh37 |
| NC_000012.10:g.56431646T>C | NCBI36 |
| NG_007484.2:g.5786A>G , LRG_490:g.5786A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257904.11:c.122A>G MANE Select | ENSP00000257904.5:p.Asn41Ser | |
| ENST00000257904.10:c.122A>G | ENSP00000257904.5:p.Asn41Ser | |
| ENST00000312990.10:c.122A>G | ENSP00000316889.6:p.Asn41Ser | |
| ENST00000546489.5:c.-4-254A>G | ENSP00000447779.1:n.-4-254A>G | |
| ENST00000547281.5:c.-101A>G | ENSP00000447274.1:n.-101A>G | |
| ENST00000549606.5:c.-158+579A>G | ENSP00000447005.1:n.-158+579A>G | |
| ENST00000550419.5:c.122A>G | ENSP00000448098.1:p.Asn41Ser | |
| ENST00000551706.1:n.331A>G | ||
| ENST00000551800.5:c.-101A>G | ENSP00000449391.1:n.-101A>G | |
| ENST00000551888.5:n.300A>G | ||
| ENST00000552254.5:c.122A>G | ENSP00000449179.1:p.Asn41Ser | |
| ENST00000552388.1:c.122A>G | ENSP00000448963.1:p.Asn41Ser | |
| ENST00000552862.1:c.122A>G | ENSP00000446763.1:p.Asn41Ser | |
| ENST00000553237.5:c.122A>G | ENSP00000448885.1:p.Asn41Ser | |
| NM_000075.3:c.122A>G | NP_000066.1:p.Asn41Ser | |
| NM_000075.4:c.122A>G MANE Select | NP_000066.1:p.Asn41Ser |