Linked Data
dbSNP Id:
rs1489674381
gnomAD v2:
19-1106256-C-T
gnomAD v3:
19-1106257-C-T
gnomAD v4:
19-1106257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106257C>T , CM000681.2:g.1106257C>T | GRCh38 |
| NC_000019.9:g.1106256C>T , CM000681.1:g.1106256C>T | GRCh37 |
| NC_000019.8:g.1057256C>T | NCBI36 |
| NG_050621.1:g.7332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.603C>T | ENSP00000473614.3:p.Asn201= | |
| ENST00000593032.6:c.472C>T | ENSP00000465828.4:p.Leu158Phe | |
| ENST00000706713.1:c.486C>T | ENSP00000516510.1:p.Asn162= | |
| ENST00000706714.1:c.472C>T | ENSP00000516511.1:p.Leu158Phe | |
| ENST00000706715.1:c.108C>T | ENSP00000516512.1:p.Asn36= | |
| ENST00000354171.13:c.492C>T MANE Select | ENSP00000346103.7:p.Asn164= | |
| ENST00000589115.6:c.477-143C>T | ENSP00000466872.3:n.477-143C>T | |
| ENST00000354171.12:c.492C>T | ENSP00000346103.7:p.Asn164= | |
| ENST00000585480.1:c.225C>T | ENSP00000467900.1:p.Asn75= | |
| ENST00000587648.5:c.372C>T | ENSP00000468349.1:p.Asn124= | |
| ENST00000588919.5:c.411C>T | ENSP00000464989.3:p.Asn137= | |
| ENST00000589115.5:c.477-143C>T | ENSP00000466872.2:n.477-143C>T | |
| ENST00000592940.2:n.863C>T | ||
| ENST00000593032.5:c.472C>T | ENSP00000465828.3:p.Leu158Phe | |
| ENST00000611653.4:c.411C>T | ENSP00000483655.1:p.Asn137= | |
| ENST00000616066.4:c.489C>T | ENSP00000485000.1:p.Asn163= | |
| ENST00000622390.4:c.600C>T | ENSP00000477503.1:p.Asn200= | |
| NM_001039847.2:c.492C>T | NP_001034936.1:p.Asn164= | |
| NM_001039848.2:c.603C>T | NP_001034937.1:p.Asn201= | |
| NM_002085.4:c.492C>T | NP_002076.2:p.Asn164= | |
| NM_001039848.3:c.603C>T | NP_001034937.1:p.Asn201= | |
| NM_001039847.3:c.492C>T | NP_001034936.1:p.Asn164= | |
| NM_001039848.4:c.603C>T | NP_001034937.1:p.Asn201= | |
| NM_001367832.1:c.411C>T | NP_001354761.1:p.Asn137= | |
| NM_002085.5:c.492C>T MANE Select | NP_002076.2:p.Asn164= |