Linked Data
ClinVar Variation Id:
328255
dbSNP Id:
rs200033151
ExAC:
19:12758376 G / T
gnomAD v2:
19-12758376-G-T
gnomAD v3:
19-12647562-G-T
gnomAD v4:
19-12647562-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647562G>T , CM000681.2:g.12647562G>T | GRCh38 |
| NC_000019.9:g.12758376G>T , CM000681.1:g.12758376G>T | GRCh37 |
| NC_000019.8:g.12619376G>T | NCBI36 |
| NG_008318.1:g.24216C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2701C>A MANE Select | ENSP00000395473.2:p.His901Asn | |
| ENST00000221363.8:c.2698C>A | ENSP00000221363.4:p.His900Asn | |
| ENST00000456935.6:c.2701C>A | ENSP00000395473.2:p.His901Asn | |
| ENST00000466794.5:n.3291C>A | ||
| ENST00000469423.1:n.23C>A | ||
| ENST00000493218.5:n.112C>A | ||
| ENST00000597692.1:c.260C>A | ||
| NM_000528.3:c.2701C>A | NP_000519.2:p.His901Asn | |
| NM_001173498.1:c.2698C>A | NP_001166969.1:p.His900Asn | |
| XM_005259913.1:c.2704C>A | XP_005259970.1:p.His902Asn | |
| XM_011528017.1:c.1600C>A | XP_011526319.1:p.His534Asn | |
| XM_005259913.2:c.2704C>A | XP_005259970.1:p.His902Asn | |
| XM_024451518.1:c.1600C>A | XP_024307286.1:p.His534Asn | |
| NM_000528.4:c.2701C>A MANE Select | NP_000519.2:p.His901Asn | |
| NM_001173498.2:c.2698C>A | NP_001166969.1:p.His900Asn |