Linked Data
ClinVar Variation Id:
2419507
ClinVar RCV Id:
RCV003115392
dbSNP Id:
rs2059952185
gnomAD v3:
10-93793333-A-G
gnomAD v4:
10-93793333-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793333A>G , CM000672.2:g.93793333A>G | GRCh38 |
| NC_000010.10:g.95553090A>G , CM000672.1:g.95553090A>G | GRCh37 |
| NC_000010.9:g.95543080A>G | NCBI36 |
| NG_011832.1:g.40525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.821A>G MANE Select | ENSP00000360472.4:p.Asn274Ser | |
| ENST00000485458.3:n.4797A>G | ||
| ENST00000635953.1:c.821A>G | ENSP00000490058.1:p.Asn274Ser | |
| ENST00000636155.1:c.821A>G | ENSP00000490355.1:p.Asn274Ser | |
| ENST00000636232.1:c.*607A>G | ENSP00000490325.1:n.*607A>G | |
| ENST00000636754.1:c.*663A>G | ENSP00000489781.1:n.*663A>G | |
| ENST00000636946.1:c.*990A>G | ENSP00000490654.1:n.*990A>G | |
| ENST00000637037.1:c.*411A>G | ENSP00000490860.1:n.*411A>G | |
| ENST00000637347.1:n.682A>G | ||
| ENST00000637611.1:c.*377A>G | ENSP00000489682.1:n.*377A>G | |
| ENST00000637689.1:c.-551A>G | ENSP00000490496.1:n.-551A>G | |
| ENST00000637925.1:c.*416A>G | ENSP00000489763.1:n.*416A>G | |
| ENST00000638049.1:c.*579A>G | ENSP00000490597.1:n.*579A>G | |
| ENST00000676175.1:n.2560A>G | ||
| ENST00000371413.4:c.821A>G | ENSP00000360467.3:p.Asn274Ser | |
| ENST00000371418.8:c.821A>G | ENSP00000360472.4:p.Asn274Ser | |
| ENST00000626307.1:n.4736A>G | ||
| ENST00000626946.1:n.491A>G | ||
| ENST00000627420.2:c.*530A>G | ENSP00000487116.1:n.*530A>G | |
| ENST00000629035.2:c.749A>G | ENSP00000486908.1:p.Asn250Ser | |
| ENST00000630047.2:c.677A>G | ENSP00000485917.1:p.Asn226Ser | |
| ENST00000630487.2:c.*611A>G | ENSP00000486859.1:n.*611A>G | |
| NM_001308275.1:c.821A>G | NP_001295204.1:p.Asn274Ser | |
| NM_001308276.1:c.677A>G | NP_001295205.1:p.Asn226Ser | |
| NM_005097.2:c.821A>G | NP_005088.1:p.Asn274Ser | |
| NM_005097.3:c.821A>G | NP_005088.1:p.Asn274Ser | |
| NR_131777.1:n.1085A>G | ||
| XM_017016911.2:c.821A>G | XP_016872400.1:p.Asn274Ser | |
| XM_017016912.2:c.677A>G | XP_016872401.1:p.Asn226Ser | |
| NM_005097.4:c.821A>G MANE Select | NP_005088.1:p.Asn274Ser | |
| NM_001308275.2:c.821A>G | NP_001295204.1:p.Asn274Ser | |
| NM_001308276.2:c.677A>G | NP_001295205.1:p.Asn226Ser | |
| NR_131777.2:n.958A>G |