Linked Data
dbSNP Id:
rs756939697
ExAC:
19:12769148 G / T
gnomAD v2:
19-12769148-G-T
gnomAD v3:
19-12658334-G-T
gnomAD v4:
19-12658334-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658334G>T , CM000681.2:g.12658334G>T | GRCh38 |
| NC_000019.9:g.12769148G>T , CM000681.1:g.12769148G>T | GRCh37 |
| NC_000019.8:g.12630148G>T | NCBI36 |
| NG_008318.1:g.13444C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1120C>A MANE Select | ENSP00000395473.2:p.His374Asn | |
| ENST00000221363.8:c.1117C>A | ENSP00000221363.4:p.His373Asn | |
| ENST00000456935.6:c.1120C>A | ENSP00000395473.2:p.His374Asn | |
| ENST00000465830.1:n.284C>A | ||
| ENST00000466794.5:n.1019C>A | ||
| ENST00000495617.1:n.280+397C>A | ||
| NM_000528.3:c.1120C>A | NP_000519.2:p.His374Asn | |
| NM_001173498.1:c.1117C>A | NP_001166969.1:p.His373Asn | |
| XM_005259913.1:c.1123C>A | XP_005259970.1:p.His375Asn | |
| XM_011528017.1:c.19C>A | XP_011526319.1:p.His7Asn | |
| XM_005259913.2:c.1123C>A | XP_005259970.1:p.His375Asn | |
| XM_024451518.1:c.19C>A | XP_024307286.1:p.His7Asn | |
| NM_000528.4:c.1120C>A MANE Select | NP_000519.2:p.His374Asn | |
| NM_001173498.2:c.1117C>A | NP_001166969.1:p.His373Asn |