Linked Data
dbSNP Id:
rs1564636741
gnomAD v2:
10-70764809-G-A
gnomAD v4:
10-69005053-G-A
MyVariant Identifiers:
chr10:g.70764809G>A (hg19)
chr10:g.70764809_70764812delinsATCC (hg19)
chr10:g.69005053G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69005053G>A , CM000672.2:g.69005053G>A | GRCh38 |
| NC_000010.10:g.70764809G>A , CM000672.1:g.70764809G>A | GRCh37 |
| NC_000010.9:g.70434815G>A | NCBI36 |
| NG_017061.1:g.21333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.533G>A MANE Select | ENSP00000354848.4:p.Ser178Asn | |
| ENST00000625461.2:n.563G>A | ||
| ENST00000626493.2:c.533G>A | ENSP00000486692.1:p.Ser178Asn | |
| ENST00000635779.2:c.533G>A | ENSP00000489663.1:p.Ser178Asn | |
| ENST00000635971.2:c.533G>A | ENSP00000489878.2:p.Ser178Asn | |
| ENST00000636200.2:c.533G>A | ENSP00000490113.2:p.Ser178Asn | |
| ENST00000637101.2:c.*106G>A | ENSP00000490704.1:n.*106G>A | |
| ENST00000637104.2:c.*102G>A | ENSP00000490019.2:n.*102G>A | |
| ENST00000637323.2:c.*174G>A | ENSP00000489659.2:n.*174G>A | |
| ENST00000637420.2:c.533G>A | ENSP00000490404.2:p.Ser178Asn | |
| ENST00000637738.2:c.533G>A | ENSP00000490742.2:p.Ser178Asn | |
| ENST00000638119.2:c.608G>A | ENSP00000490026.1:p.Ser203Asn | |
| ENST00000674660.1:c.526-44G>A | ENSP00000502562.1:n.526-44G>A | |
| ENST00000674688.1:n.563G>A | ||
| ENST00000674897.1:c.17G>A | ENSP00000502225.1:p.Ser6Asn | |
| ENST00000674936.1:c.533G>A | ENSP00000502484.1:p.Ser178Asn | |
| ENST00000675576.1:c.434G>A | ENSP00000502750.1:p.Ser145Asn | |
| ENST00000676080.1:c.*46G>A | ENSP00000502706.1:n.*46G>A | |
| ENST00000361983.6:c.533G>A | ENSP00000354848.4:p.Ser178Asn | |
| ENST00000625461.1:n.249G>A | ||
| ENST00000626493.1:c.533G>A | ENSP00000486692.1:p.Ser178Asn | |
| NM_015634.3:c.533G>A | NP_056449.1:p.Ser178Asn | |
| NM_015634.4:c.533G>A MANE Select | NP_056449.1:p.Ser178Asn |