Linked Data
ClinVar Variation Id:
2144311
ClinVar RCV Id:
RCV003053306
dbSNP Id:
rs557379467
ExAC:
1:78407893 G / C
gnomAD v2:
1-78407893-G-C
gnomAD v4:
1-77942208-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942208G>C , CM000663.2:g.77942208G>C | GRCh38 |
| NC_000001.10:g.78407893G>C , CM000663.1:g.78407893G>C | GRCh37 |
| NC_000001.9:g.78180481G>C | NCBI36 |
| NG_016625.1:g.58694G>C , LRG_442:g.58694G>C | |
| NG_033243.2:g.41886C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1659G>C MANE Select | ENSP00000333938.7:p.Lys553Asn | |
| ENST00000330010.12:c.1467G>C | ENSP00000327363.8:p.Lys489Asn | |
| ENST00000334785.11:c.1659G>C | ENSP00000333938.7:p.Lys553Asn | |
| ENST00000342754.5:c.1358G>C | ||
| ENST00000470735.1:n.498G>C | ||
| ENST00000480732.2:n.1233G>C | ||
| NM_001172309.1:c.1467G>C | NP_001165780.1:p.Lys489Asn | |
| NM_144573.3:c.1659G>C , LRG_442t1:c.1659G>C | NP_653174.3:p.Lys553Asn | |
| XM_005271322.2:c.1659G>C | XP_005271379.1:p.Lys553Asn | |
| XM_005271323.2:c.1617G>C | XP_005271380.1:p.Lys539Asn | |
| XM_005271324.3:c.1467G>C | XP_005271381.1:p.Lys489Asn | |
| XM_005271325.2:c.1437G>C | XP_005271382.1:p.Lys479Asn | |
| XM_005271326.2:c.1425G>C | XP_005271383.1:p.Lys475Asn | |
| XM_005271327.2:c.1242G>C | XP_005271384.1:p.Lys414Asn | |
| XM_005271322.4:c.1659G>C | XP_005271379.1:p.Lys553Asn | |
| XM_005271323.4:c.1617G>C | XP_005271380.1:p.Lys539Asn | |
| XM_005271324.5:c.1467G>C | XP_005271381.1:p.Lys489Asn | |
| XM_005271325.4:c.1437G>C | XP_005271382.1:p.Lys479Asn | |
| XM_005271326.4:c.1425G>C | XP_005271383.1:p.Lys475Asn | |
| XM_005271327.4:c.1242G>C | XP_005271384.1:p.Lys414Asn | |
| NM_001172309.2:c.1467G>C | NP_001165780.1:p.Lys489Asn | |
| NM_144573.4:c.1659G>C MANE Select | NP_653174.3:p.Lys553Asn |