Linked Data
ClinVar Variation Id:
2186342
ClinVar RCV Id:
RCV002606567
dbSNP Id:
rs751326080
gnomAD v2:
1-67724499-G-C
gnomAD v3:
1-67258816-G-C
gnomAD v4:
1-67258816-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258816G>C , CM000663.2:g.67258816G>C | GRCh38 |
| NC_000001.10:g.67724499G>C , CM000663.1:g.67724499G>C | GRCh37 |
| NC_000001.9:g.67497087G>C | NCBI36 |
| NG_011498.1:g.97331G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1417G>C | ENSP00000513138.1:n.1417G>C | |
| ENST00000697150.1:c.1475G>C | ENSP00000513139.1:n.1475G>C | |
| ENST00000697151.1:c.1408G>C | ENSP00000513140.1:n.1408G>C | |
| ENST00000697164.1:c.1488G>C | ENSP00000513153.1:p.Lys496Asn | |
| ENST00000697165.1:c.1275G>C | ENSP00000513154.1:p.Lys425Asn | |
| ENST00000347310.10:c.1578G>C MANE Select | ENSP00000321345.5:p.Lys526Asn | |
| ENST00000637002.1:c.969G>C | ENSP00000490340.1:p.Lys323Asn | |
| ENST00000347310.9:c.1578G>C | ENSP00000321345.5:p.Lys526Asn | |
| ENST00000395227.2:c.372G>C | ENSP00000378652.2:p.Lys124Asn | |
| ENST00000425614.3:c.813G>C | ENSP00000387640.2:p.Lys271Asn | |
| ENST00000473881.2:c.*404G>C | ENSP00000486667.1:n.*404G>C | |
| NM_144701.2:c.1578G>C | NP_653302.2:p.Lys526Asn | |
| XM_005270516.2:c.816G>C | XP_005270573.1:p.Lys272Asn | |
| XM_011540789.1:c.1668G>C | XP_011539091.1:p.Lys556Asn | |
| XM_011540790.1:c.1578G>C | XP_011539092.1:p.Lys526Asn | |
| XM_011540791.1:c.1578G>C | XP_011539093.1:p.Lys526Asn | |
| XM_011540790.3:c.1578G>C | XP_011539092.1:p.Lys526Asn | |
| XM_011540791.3:c.1578G>C | XP_011539093.1:p.Lys526Asn | |
| XR_001736993.1:n.1658G>C | ||
| NM_144701.3:c.1578G>C MANE Select | NP_653302.2:p.Lys526Asn |