Linked Data
ClinVar Variation Id:
949368
ClinVar RCV Id:
RCV001220814
dbSNP Id:
rs1347589242
gnomAD v4:
19-7560671-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7560671G>C , CM000681.2:g.7560671G>C | GRCh38 |
| NC_000019.9:g.7625557G>C , CM000681.1:g.7625557G>C | GRCh37 |
| NC_000019.8:g.7531557G>C | NCBI36 |
| NG_013374.1:g.31520G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3723G>C MANE Select | ENSP00000473211.1:p.Lys1241Asn | |
| ENST00000221249.10:c.3609G>C | ENSP00000221249.5:p.Lys1203Asn | |
| ENST00000414982.7:c.3753G>C | ENSP00000407509.2:p.Lys1251Asn | |
| ENST00000450331.7:c.3609G>C | ENSP00000394348.2:p.Lys1203Asn | |
| ENST00000545201.6:c.3528G>C | ENSP00000443323.1:p.Lys1176Asn | |
| ENST00000597202.1:n.81G>C | ||
| ENST00000599947.1:c.186-343G>C | ||
| ENST00000600737.5:c.3723G>C | ENSP00000473211.1:p.Lys1241Asn | |
| NM_001166111.1:c.3753G>C | NP_001159583.1:p.Lys1251Asn | |
| NM_001166112.1:c.3528G>C | NP_001159584.1:p.Lys1176Asn | |
| NM_001166113.1:c.3609G>C | NP_001159585.1:p.Lys1203Asn | |
| NM_001166114.1:c.3723G>C | NP_001159586.1:p.Lys1241Asn | |
| NM_006702.4:c.3609G>C | NP_006693.3:p.Lys1203Asn | |
| NM_001166111.2:c.3753G>C | NP_001159583.1:p.Lys1251Asn | |
| NM_001166114.2:c.3723G>C MANE Select | NP_001159586.1:p.Lys1241Asn | |
| NM_006702.5:c.3609G>C | NP_006693.3:p.Lys1203Asn | |
| NM_001166112.2:c.3528G>C | NP_001159584.1:p.Lys1176Asn |