Linked Data
dbSNP Id:
rs1182244458
gnomAD v2:
1-16380245-G-C
gnomAD v3:
1-16053750-G-C
gnomAD v4:
1-16053750-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16053750G>C , CM000663.2:g.16053750G>C | GRCh38 |
| NC_000001.10:g.16380245G>C , CM000663.1:g.16380245G>C | GRCh37 |
| NC_000001.9:g.16252832G>C | NCBI36 |
| NG_013079.1:g.14999G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1734G>C | ENSP00000507062.1:p.Lys578Asn | |
| ENST00000682793.1:c.1734G>C | ENSP00000506910.1:p.Lys578Asn | |
| ENST00000682838.1:c.*1476G>C | ENSP00000507652.1:n.*1476G>C | |
| ENST00000683578.1:c.1734G>C | ENSP00000507430.1:p.Lys578Asn | |
| ENST00000683606.1:n.1340G>C | ||
| ENST00000683661.1:n.3269G>C | ||
| ENST00000684324.1:c.1734G>C | ENSP00000507937.1:p.Lys578Asn | |
| ENST00000684545.1:c.1734G>C | ENSP00000506733.1:p.Lys578Asn | |
| ENST00000684624.1:n.1111G>C | ||
| ENST00000684714.1:c.1707+27G>C | ENSP00000506861.1:n.1707+27G>C | |
| ENST00000684731.1:n.1083+1339G>C | ||
| ENST00000375679.9:c.1734G>C MANE Select | ENSP00000364831.5:p.Lys578Asn | |
| ENST00000375667.7:c.1227G>C | ENSP00000364819.3:p.Lys409Asn | |
| ENST00000375679.8:c.1734G>C | ENSP00000364831.4:p.Lys578Asn | |
| ENST00000431772.1:c.201G>C | ENSP00000389344.1:p.Lys67Asn | |
| ENST00000619181.4:c.1293+60G>C | ENSP00000483866.1:n.1293+60G>C | |
| NM_000085.4:c.1734G>C | NP_000076.2:p.Lys578Asn | |
| NM_001165945.2:c.1227G>C | NP_001159417.2:p.Lys409Asn | |
| XM_011540619.1:c.1575G>C | XP_011538921.1:p.Lys525Asn | |
| XM_011540621.1:c.1083G>C | XP_011538923.1:p.Lys361Asn | |
| NM_000085.5:c.1734G>C MANE Select | NP_000076.2:p.Lys578Asn |