Linked Data
ClinVar Variation Id:
1303213
ClinVar RCV Id:
RCV001756712
dbSNP Id:
rs142415484
ExAC:
10:26359295 C / A
gnomAD v2:
10-26359295-C-A
gnomAD v3:
10-26070366-C-A
gnomAD v4:
10-26070366-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26070366C>A , CM000672.2:g.26070366C>A | GRCh38 |
| NC_000010.10:g.26359295C>A , CM000672.1:g.26359295C>A | GRCh37 |
| NC_000010.9:g.26399301C>A | NCBI36 |
| NG_011635.1:g.141294C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642197.1:n.1528C>A | ||
| ENST00000642920.2:c.1324C>A MANE Select | ENSP00000495965.1:p.His442Asn | |
| ENST00000647478.1:c.1324C>A | ENSP00000493932.1:p.His442Asn | |
| ENST00000265944.9:c.1324C>A | ENSP00000265944.4:p.His442Asn | |
| ENST00000543632.5:c.1324C>A | ENSP00000445909.1:p.His442Asn | |
| NM_017433.4:c.1324C>A | NP_059129.3:p.His442Asn | |
| XM_011519498.1:c.1324C>A | XP_011517800.1:p.His442Asn | |
| XM_011519499.1:c.1324C>A | XP_011517801.1:p.His442Asn | |
| XM_011519500.1:c.1324C>A | XP_011517802.1:p.His442Asn | |
| XM_011519501.1:c.1324C>A | XP_011517803.1:p.His442Asn | |
| XM_011519502.1:c.1324C>A | XP_011517804.1:p.His442Asn | |
| XM_011519503.1:c.1324C>A | XP_011517805.1:p.His442Asn | |
| XM_011519504.1:c.1324C>A | XP_011517806.1:p.His442Asn | |
| XM_011519505.1:c.1324C>A | XP_011517807.1:p.His442Asn | |
| XM_011519506.1:c.1324C>A | XP_011517808.1:p.His442Asn | |
| XM_011519507.1:c.961C>A | XP_011517809.1:p.His321Asn | |
| XM_011519508.1:c.1324C>A | XP_011517810.1:p.His442Asn | |
| XM_011519509.1:c.1324C>A | XP_011517811.1:p.His442Asn | |
| XM_011519510.1:c.1324C>A | XP_011517812.1:p.His442Asn | |
| XM_011519511.1:c.1324C>A | XP_011517813.1:p.His442Asn | |
| XR_930492.1:n.1528C>A | ||
| XR_930493.1:n.1528C>A | ||
| XR_930494.1:n.1528C>A | ||
| XM_011519498.2:c.1324C>A | XP_011517800.1:p.His442Asn | |
| XM_011519500.2:c.1324C>A | XP_011517802.1:p.His442Asn | |
| XM_011519506.2:c.1324C>A | XP_011517808.1:p.His442Asn | |
| XM_011519508.2:c.1324C>A | XP_011517810.1:p.His442Asn | |
| XM_011519510.2:c.1324C>A | XP_011517812.1:p.His442Asn | |
| XM_011519511.2:c.1324C>A | XP_011517813.1:p.His442Asn | |
| XR_001747111.1:n.1528C>A | ||
| NM_017433.5:c.1324C>A MANE Select | NP_059129.3:p.His442Asn |