Linked Data
ClinVar Variation Id:
764914
ClinVar RCV Id:
RCV000943281
dbSNP Id:
rs774854847
ExAC:
4:997225 C / T
gnomAD v2:
4-997225-C-T
gnomAD v3:
4-1003437-C-T
gnomAD v4:
4-1003437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003437C>T , CM000666.2:g.1003437C>T | GRCh38 |
| NC_000004.11:g.997225C>T , CM000666.1:g.997225C>T | GRCh37 |
| NC_000004.10:g.987225C>T | NCBI36 |
| NG_008103.1:g.21441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1617C>T | ENSP00000247933.4:p.His539= | |
| ENST00000514224.2:c.1617C>T MANE Select | ENSP00000425081.2:p.His539= | |
| ENST00000652070.1:n.1673C>T | ||
| ENST00000247933.8:c.1617C>T | ENSP00000247933.4:p.His539= | |
| ENST00000514224.1:c.1221C>T | ENSP00000425081.1:p.His407= | |
| ENST00000514417.1:n.9C>T | ||
| ENST00000514698.5:n.1724C>T | ||
| NM_000203.4:c.1617C>T | NP_000194.2:p.His539= | |
| NR_110313.1:n.1705C>T | ||
| XM_006713882.2:c.1221C>T | XP_006713945.1:p.His407= | |
| XM_011513459.1:c.1683C>T | XP_011511761.1:p.His561= | |
| XM_011513460.1:c.1476C>T | XP_011511762.1:p.His492= | |
| XM_011513461.1:c.1410C>T | XP_011511763.1:p.His470= | |
| XM_011513462.1:c.1329C>T | XP_011511764.1:p.His443= | |
| XM_011513463.1:c.1329C>T | XP_011511765.1:p.His443= | |
| XR_924947.1:n.1873C>T | ||
| NM_000203.5:c.1617C>T MANE Select | NP_000194.2:p.His539= | |
| NM_001363576.1:c.1221C>T | NP_001350505.1:p.His407= | |
| XM_011513461.2:c.1410C>T | XP_011511763.1:p.His470= | |
| XM_017008163.1:c.657C>T | XP_016863652.1:p.His219= |