Linked Data
dbSNP Id:
rs139056441
ExAC:
9:34647179 C / A
gnomAD v2:
9-34647179-C-A
gnomAD v3:
9-34647182-C-A
gnomAD v4:
9-34647182-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647182C>A , CM000671.2:g.34647182C>A | GRCh38 |
| NC_000009.11:g.34647179C>A , CM000671.1:g.34647179C>A | GRCh37 |
| NC_000009.10:g.34637179C>A | NCBI36 |
| NG_009029.1:g.5545C>A | |
| NG_009029.2:g.5594C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.176C>A | ENSP00000509954.1:p.Pro59His | |
| ENST00000378842.8:c.176C>A MANE Select | ENSP00000368119.4:p.Pro59His | |
| ENST00000378842.7:c.176C>A | ENSP00000368119.3:p.Pro59His | |
| ENST00000450095.6:c.-27C>A | ENSP00000401956.2:n.-27C>A | |
| ENST00000465543.6:n.515C>A | ||
| ENST00000468099.2:n.216C>A | ||
| ENST00000472111.5:n.217C>A | ||
| ENST00000473506.6:c.176C>A | ENSP00000432839.2:p.Pro59His | |
| ENST00000473529.5:n.223C>A | ||
| ENST00000485531.1:n.169C>A | ||
| ENST00000487381.5:n.202C>A | ||
| ENST00000489643.6:n.206C>A | ||
| ENST00000554085.5:c.176C>A | ENSP00000450419.1:p.Pro59His | |
| ENST00000554139.5:n.229C>A | ||
| ENST00000554330.5:n.173C>A | ||
| ENST00000554550.5:c.176C>A | ENSP00000451435.1:p.Pro59His | |
| ENST00000554638.5:n.200C>A | ||
| ENST00000554897.5:c.176C>A | ENSP00000450942.1:p.Pro59His | |
| ENST00000554944.5:n.206C>A | ||
| ENST00000555020.5:n.206C>A | ||
| ENST00000555086.5:n.180C>A | ||
| ENST00000555214.5:n.185C>A | ||
| ENST00000556157.1:n.283C>A | ||
| ENST00000556244.1:c.60C>A | ||
| ENST00000556278.1:c.176C>A | ENSP00000451792.1:p.Pro59His | |
| ENST00000556403.5:n.189C>A | ||
| ENST00000556494.5:n.208C>A | ||
| ENST00000557541.5:n.369C>A | ||
| ENST00000557706.5:n.290C>A | ||
| NM_000155.3:c.176C>A | NP_000146.2:p.Pro59His | |
| NM_001258332.1:c.-27C>A | NP_001245261.1:n.-27C>A | |
| NM_000155.4:c.176C>A MANE Select | NP_000146.2:p.Pro59His | |
| NM_001258332.2:c.-27C>A | NP_001245261.1:n.-27C>A |