Linked Data
dbSNP Id:
rs111033668
ExAC:
9:34647521 T / C
gnomAD v2:
9-34647521-T-C
gnomAD v4:
9-34647524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647524T>C , CM000671.2:g.34647524T>C | GRCh38 |
| NC_000009.11:g.34647521T>C , CM000671.1:g.34647521T>C | GRCh37 |
| NC_000009.10:g.34637521T>C | NCBI36 |
| NG_009029.1:g.5887T>C | |
| NG_028966.1:g.340T>C | |
| NG_009029.2:g.5936T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.285T>C | ENSP00000509954.1:p.Phe95= | |
| ENST00000378842.8:c.285T>C MANE Select | ENSP00000368119.4:p.Phe95= | |
| ENST00000378842.7:c.285T>C | ENSP00000368119.3:p.Phe95= | |
| ENST00000450095.6:c.50+266T>C | ENSP00000401956.2:n.50+266T>C | |
| ENST00000465543.6:n.624T>C | ||
| ENST00000472111.5:n.326T>C | ||
| ENST00000473506.6:c.253-17T>C | ENSP00000432839.2:n.253-17T>C | |
| ENST00000473529.5:n.332T>C | ||
| ENST00000485531.1:n.511T>C | ||
| ENST00000487381.5:n.544T>C | ||
| ENST00000489643.6:n.282+266T>C | ||
| ENST00000554085.5:c.*29T>C | ENSP00000450419.1:n.*29T>C | |
| ENST00000554139.5:n.338T>C | ||
| ENST00000554330.5:n.250-17T>C | ||
| ENST00000554550.5:c.252+266T>C | ENSP00000451435.1:n.252+266T>C | |
| ENST00000554638.5:n.542T>C | ||
| ENST00000554897.5:c.252+266T>C | ENSP00000450942.1:n.252+266T>C | |
| ENST00000554944.5:n.283-17T>C | ||
| ENST00000555020.5:n.315T>C | ||
| ENST00000555086.5:n.289T>C | ||
| ENST00000555214.5:n.261+266T>C | ||
| ENST00000556157.1:n.409T>C | ||
| ENST00000556244.1:c.272T>C | ||
| ENST00000556278.1:c.252+266T>C | ENSP00000451792.1:n.252+266T>C | |
| ENST00000556403.5:n.298T>C | ||
| ENST00000556494.5:n.317T>C | ||
| ENST00000557541.5:n.446-17T>C | ||
| ENST00000557706.5:n.632T>C | ||
| NM_000155.3:c.285T>C | NP_000146.2:p.Phe95= | |
| NM_001258332.1:c.50+266T>C | NP_001245261.1:n.50+266T>C | |
| NM_000155.4:c.285T>C MANE Select | NP_000146.2:p.Phe95= | |
| NM_001258332.2:c.50+266T>C | NP_001245261.1:n.50+266T>C |