Linked Data
ClinVar Variation Id:
36143
dbSNP Id:
rs193922247
gnomAD v2:
9-34647206-A-C
gnomAD v4:
9-34647209-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647209A>C , CM000671.2:g.34647209A>C | GRCh38 |
| NC_000009.11:g.34647206A>C , CM000671.1:g.34647206A>C | GRCh37 |
| NC_000009.10:g.34637206A>C | NCBI36 |
| NG_009029.1:g.5572A>C | |
| NG_028966.1:g.25A>C | |
| NG_009029.2:g.5621A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.203A>C | ENSP00000509954.1:p.His68Pro | |
| ENST00000378842.8:c.203A>C MANE Select | ENSP00000368119.4:p.His68Pro | |
| ENST00000378842.7:c.203A>C | ENSP00000368119.3:p.His68Pro | |
| ENST00000450095.6:c.1A>C | ENSP00000401956.2:p.Met1Leu | |
| ENST00000465543.6:n.542A>C | ||
| ENST00000468099.2:n.243A>C | ||
| ENST00000472111.5:n.244A>C | ||
| ENST00000473506.6:c.203A>C | ENSP00000432839.2:p.His68Pro | |
| ENST00000473529.5:n.250A>C | ||
| ENST00000485531.1:n.196A>C | ||
| ENST00000487381.5:n.229A>C | ||
| ENST00000489643.6:n.233A>C | ||
| ENST00000554085.5:c.203A>C | ENSP00000450419.1:p.His68Pro | |
| ENST00000554139.5:n.256A>C | ||
| ENST00000554330.5:n.200A>C | ||
| ENST00000554550.5:c.203A>C | ENSP00000451435.1:p.His68Pro | |
| ENST00000554638.5:n.227A>C | ||
| ENST00000554897.5:c.203A>C | ENSP00000450942.1:p.His68Pro | |
| ENST00000554944.5:n.233A>C | ||
| ENST00000555020.5:n.233A>C | ||
| ENST00000555086.5:n.207A>C | ||
| ENST00000555214.5:n.212A>C | ||
| ENST00000556157.1:n.310A>C | ||
| ENST00000556244.1:c.87A>C | ||
| ENST00000556278.1:c.203A>C | ENSP00000451792.1:p.His68Pro | |
| ENST00000556403.5:n.216A>C | ||
| ENST00000556494.5:n.235A>C | ||
| ENST00000557541.5:n.396A>C | ||
| ENST00000557706.5:n.317A>C | ||
| NM_000155.3:c.203A>C | NP_000146.2:p.His68Pro | |
| NM_001258332.1:c.1A>C | NP_001245261.1:p.Met1Leu | |
| NM_000155.4:c.203A>C MANE Select | NP_000146.2:p.His68Pro | |
| NM_001258332.2:c.1A>C | NP_001245261.1:p.Met1Leu |