Linked Data
ClinVar Variation Id:
1312190
ClinVar RCV Id:
RCV001752843
dbSNP Id:
rs2145964972
gnomAD v4:
19-41978242-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41978242T>C , CM000681.2:g.41978242T>C | GRCh38 |
| NC_000019.9:g.42482394T>C , CM000681.1:g.42482394T>C | GRCh37 |
| NC_000019.8:g.47174234T>C | NCBI36 |
| NG_008015.1:g.20989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1754A>G | ENSP00000444688.1:p.Asn585Ser | |
| ENST00000644613.1:c.1715A>G | ENSP00000494711.1:p.Asn572Ser | |
| ENST00000648268.1:c.1715A>G MANE Select | ENSP00000498113.1:p.Asn572Ser | |
| ENST00000302102.9:c.1715A>G | ENSP00000302397.5:p.Asn572Ser | |
| ENST00000441343.5:c.1715A>G | ENSP00000411503.1:p.Asn572Ser | |
| ENST00000543770.5:c.1748A>G | ENSP00000437577.1:p.Asn583Ser | |
| ENST00000545399.5:c.1754A>G | ENSP00000444688.1:p.Asn585Ser | |
| ENST00000602133.5:c.1625A>G | ENSP00000471581.1:p.Asn542Ser | |
| NM_001256213.1:c.1748A>G | NP_001243142.1:p.Asn583Ser | |
| NM_001256214.1:c.1754A>G | NP_001243143.1:p.Asn585Ser | |
| NM_152296.4:c.1715A>G | NP_689509.1:p.Asn572Ser | |
| XM_011526991.1:c.1625A>G | XP_011525293.1:p.Asn542Ser | |
| NM_152296.5:c.1715A>G MANE Select | NP_689509.1:p.Asn572Ser | |
| NM_001256214.2:c.1754A>G | NP_001243143.1:p.Asn585Ser | |
| NM_001256213.2:c.1748A>G | NP_001243142.1:p.Asn583Ser |