Linked Data
dbSNP Id:
rs762466495
ExAC:
19:694923 G / T
gnomAD v2:
19-694923-G-T
gnomAD v3:
19-694923-G-T
gnomAD v4:
19-694923-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694923G>T , CM000681.2:g.694923G>T | GRCh38 |
| NC_000019.9:g.694923G>T , CM000681.1:g.694923G>T | GRCh37 |
| NC_000019.8:g.645923G>T | NCBI36 |
| NG_051189.1:g.5609C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.124C>A MANE Select | ENSP00000327386.6:p.His42Asn | |
| ENST00000329267.8:c.124C>A | ENSP00000327386.6:p.His42Asn | |
| ENST00000613411.4:c.127C>A | ENSP00000482358.1:p.His43Asn | |
| NM_001308209.1:c.124C>A | NP_001295138.1:p.His42Asn | |
| NM_214710.3:c.127C>A | NP_999875.1:p.His43Asn | |
| NM_214710.4:c.127C>A | NP_999875.1:p.His43Asn | |
| NM_001308209.2:c.124C>A MANE Select | NP_001295138.2:p.His42Asn | |
| NM_214710.5:c.127C>A | NP_999875.2:p.His43Asn |