Linked Data
dbSNP Id:
rs761025361
ExAC:
19:17953981 G / T
gnomAD v2:
19-17953981-G-T
gnomAD v4:
19-17843172-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843172G>T , CM000681.2:g.17843172G>T | GRCh38 |
| NC_000019.9:g.17953981G>T , CM000681.1:g.17953981G>T | GRCh37 |
| NC_000019.8:g.17814981G>T | NCBI36 |
| NG_007273.1:g.9820C>A , LRG_77:g.9820C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.421C>A | ENSP00000513006.1:p.His141Asn | |
| ENST00000458235.7:c.421C>A MANE Select | ENSP00000391676.1:p.His141Asn | |
| ENST00000458235.5:c.421C>A | ENSP00000391676.1:p.His141Asn | |
| ENST00000526008.5:n.521C>A | ||
| ENST00000527031.5:n.511C>A | ||
| ENST00000527670.5:c.421C>A | ENSP00000432511.1:p.His141Asn | |
| ENST00000528293.1:n.436C>A | ||
| ENST00000534444.1:c.421C>A | ENSP00000436421.1:p.His141Asn | |
| NM_000215.3:c.421C>A , LRG_77t1:c.421C>A | NP_000206.2:p.His141Asn | |
| XM_005259896.2:c.550C>A | XP_005259953.1:p.His184Asn | |
| XM_006722745.2:c.421C>A | XP_006722808.1:p.His141Asn | |
| XM_011527990.1:c.550C>A | XP_011526292.1:p.His184Asn | |
| XM_011527991.1:c.550C>A | XP_011526293.1:p.His184Asn | |
| XR_430137.2:n.560C>A | ||
| XM_005259896.3:c.550C>A | XP_005259953.1:p.His184Asn | |
| XM_011527991.2:c.550C>A | XP_011526293.1:p.His184Asn | |
| NM_000215.4:c.421C>A MANE Select | NP_000206.2:p.His141Asn |