Linked Data
dbSNP Id:
rs1227068531
gnomAD v2:
19-8645826-C-T
gnomAD v3:
19-8580942-C-T
gnomAD v4:
19-8580942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580942C>T , CM000681.2:g.8580942C>T | GRCh38 |
| NC_000019.9:g.8645826C>T , CM000681.1:g.8645826C>T | GRCh37 |
| NC_000019.8:g.8551826C>T | NCBI36 |
| NG_011840.2:g.34761G>A | |
| NG_052844.1:g.1506G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3263G>A MANE Select | ENSP00000471851.1:p.Ser1088Asn | |
| ENST00000270328.8:c.3263G>A | ENSP00000270328.4:p.Ser1088Asn | |
| ENST00000593913.5:c.*2140G>A | ENSP00000469901.1:n.*2140G>A | |
| ENST00000595838.5:c.1724G>A | ENSP00000470501.1:p.Ser575Asn | |
| ENST00000597188.5:c.3263G>A | ENSP00000471851.1:p.Ser1088Asn | |
| NM_001282352.1:c.1724G>A | NP_001269281.1:p.Ser575Asn | |
| NM_030957.3:c.3263G>A | NP_112219.3:p.Ser1088Asn | |
| XM_006722917.2:c.2306G>A | XP_006722980.1:p.Ser769Asn | |
| XM_011528331.1:c.3410G>A | XP_011526633.1:p.Ser1137Asn | |
| XM_011528332.1:c.3410G>A | XP_011526634.1:p.Ser1137Asn | |
| XM_011528333.1:c.3410G>A | XP_011526635.1:p.Ser1137Asn | |
| XM_011528334.1:c.3086G>A | XP_011526636.1:p.Ser1029Asn | |
| XM_011528335.1:c.1979G>A | XP_011526637.1:p.Ser660Asn | |
| XM_011528336.1:c.1973G>A | XP_011526638.1:p.Ser658Asn | |
| XM_006722917.3:c.2306G>A | XP_006722980.1:p.Ser769Asn | |
| XM_017027338.2:c.3263G>A | XP_016882827.1:p.Ser1088Asn | |
| XM_017027339.1:c.1832G>A | XP_016882828.1:p.Ser611Asn | |
| XM_017027340.1:c.1826G>A | XP_016882829.1:p.Ser609Asn | |
| NM_030957.4:c.3263G>A MANE Select | NP_112219.3:p.Ser1088Asn | |
| NM_001282352.2:c.1724G>A | NP_001269281.1:p.Ser575Asn |