Linked Data
dbSNP Id:
rs753701935
ExAC:
19:12769147 T / A
gnomAD v2:
19-12769147-T-A
gnomAD v3:
19-12658333-T-A
gnomAD v4:
19-12658333-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658333T>A , CM000681.2:g.12658333T>A | GRCh38 |
| NC_000019.9:g.12769147T>A , CM000681.1:g.12769147T>A | GRCh37 |
| NC_000019.8:g.12630147T>A | NCBI36 |
| NG_008318.1:g.13445A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1121A>T MANE Select | ENSP00000395473.2:p.His374Leu | |
| ENST00000221363.8:c.1118A>T | ENSP00000221363.4:p.His373Leu | |
| ENST00000456935.6:c.1121A>T | ENSP00000395473.2:p.His374Leu | |
| ENST00000465830.1:n.285A>T | ||
| ENST00000466794.5:n.1020A>T | ||
| ENST00000495617.1:n.280+398A>T | ||
| NM_000528.3:c.1121A>T | NP_000519.2:p.His374Leu | |
| NM_001173498.1:c.1118A>T | NP_001166969.1:p.His373Leu | |
| XM_005259913.1:c.1124A>T | XP_005259970.1:p.His375Leu | |
| XM_011528017.1:c.20A>T | XP_011526319.1:p.His7Leu | |
| XM_005259913.2:c.1124A>T | XP_005259970.1:p.His375Leu | |
| XM_024451518.1:c.20A>T | XP_024307286.1:p.His7Leu | |
| NM_000528.4:c.1121A>T MANE Select | NP_000519.2:p.His374Leu | |
| NM_001173498.2:c.1118A>T | NP_001166969.1:p.His373Leu |