Linked Data
ClinVar Variation Id:
280963
ClinVar RCV Id:
RCV000299685
dbSNP Id:
rs111033678
gnomAD v4:
9-34647669-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647669A>C , CM000671.2:g.34647669A>C | GRCh38 |
| NC_000009.11:g.34647666A>C , CM000671.1:g.34647666A>C | GRCh37 |
| NC_000009.10:g.34637666A>C | NCBI36 |
| NG_009029.1:g.6032A>C | |
| NG_028966.1:g.485A>C | |
| NG_009029.2:g.6081A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.328+102A>C | ENSP00000509954.1:n.328+102A>C | |
| ENST00000378842.8:c.341A>C MANE Select | ENSP00000368119.4:p.His114Pro | |
| ENST00000378842.7:c.341A>C | ENSP00000368119.3:p.His114Pro | |
| ENST00000450095.6:c.51-163A>C | ENSP00000401956.2:n.51-163A>C | |
| ENST00000465543.6:n.680A>C | ||
| ENST00000472111.5:n.471A>C | ||
| ENST00000473506.6:c.292A>C | ENSP00000432839.2:p.Ile98Leu | |
| ENST00000473529.5:n.477A>C | ||
| ENST00000485531.1:n.656A>C | ||
| ENST00000487381.5:n.600A>C | ||
| ENST00000489643.6:n.282+411A>C | ||
| ENST00000554085.5:c.*85A>C | ENSP00000450419.1:n.*85A>C | |
| ENST00000554139.5:n.394A>C | ||
| ENST00000554330.5:n.378A>C | ||
| ENST00000554550.5:c.253-163A>C | ENSP00000451435.1:n.253-163A>C | |
| ENST00000554638.5:n.687A>C | ||
| ENST00000554897.5:c.253-163A>C | ENSP00000450942.1:n.253-163A>C | |
| ENST00000554944.5:n.411A>C | ||
| ENST00000555020.5:n.371A>C | ||
| ENST00000555086.5:n.345A>C | ||
| ENST00000555214.5:n.262-379A>C | ||
| ENST00000556157.1:n.465A>C | ||
| ENST00000556244.1:c.328A>C | ||
| ENST00000556278.1:c.252+411A>C | ENSP00000451792.1:n.252+411A>C | |
| ENST00000556403.5:n.443A>C | ||
| ENST00000556494.5:n.462A>C | ||
| ENST00000557541.5:n.485A>C | ||
| ENST00000557706.5:n.777A>C | ||
| NM_000155.3:c.341A>C | NP_000146.2:p.His114Pro | |
| NM_001258332.1:c.51-163A>C | NP_001245261.1:n.51-163A>C | |
| NM_000155.4:c.341A>C MANE Select | NP_000146.2:p.His114Pro | |
| NM_001258332.2:c.51-163A>C | NP_001245261.1:n.51-163A>C |