Linked Data
dbSNP Id:
rs769721160
ExAC:
19:7625632 T / C
gnomAD v2:
19-7625632-T-C
gnomAD v3:
19-7560746-T-C
gnomAD v4:
19-7560746-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7560746T>C , CM000681.2:g.7560746T>C | GRCh38 |
| NC_000019.9:g.7625632T>C , CM000681.1:g.7625632T>C | GRCh37 |
| NC_000019.8:g.7531632T>C | NCBI36 |
| NG_013374.1:g.31595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3798T>C MANE Select | ENSP00000473211.1:p.Asn1266= | |
| ENST00000221249.10:c.3684T>C | ENSP00000221249.5:p.Asn1228= | |
| ENST00000414982.7:c.3828T>C | ENSP00000407509.2:p.Asn1276= | |
| ENST00000450331.7:c.3684T>C | ENSP00000394348.2:p.Asn1228= | |
| ENST00000545201.6:c.3603T>C | ENSP00000443323.1:p.Asn1201= | |
| ENST00000597202.1:n.156T>C | ||
| ENST00000599947.1:c.186-268T>C | ||
| ENST00000600737.5:c.3798T>C | ENSP00000473211.1:p.Asn1266= | |
| NM_001166111.1:c.3828T>C | NP_001159583.1:p.Asn1276= | |
| NM_001166112.1:c.3603T>C | NP_001159584.1:p.Asn1201= | |
| NM_001166113.1:c.3684T>C | NP_001159585.1:p.Asn1228= | |
| NM_001166114.1:c.3798T>C | NP_001159586.1:p.Asn1266= | |
| NM_006702.4:c.3684T>C | NP_006693.3:p.Asn1228= | |
| NM_001166111.2:c.3828T>C | NP_001159583.1:p.Asn1276= | |
| NM_001166114.2:c.3798T>C MANE Select | NP_001159586.1:p.Asn1266= | |
| NM_006702.5:c.3684T>C | NP_006693.3:p.Asn1228= | |
| NM_001166112.2:c.3603T>C | NP_001159584.1:p.Asn1201= |