Linked Data
ClinVar Variation Id:
36148
ClinVar RCV Id:
RCV001276269
dbSNP Id:
rs12000481
ExAC:
9:34648095 G / A
gnomAD v2:
9-34648095-G-A
gnomAD v3:
9-34648098-G-A
gnomAD v4:
9-34648098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648098G>A , CM000671.2:g.34648098G>A | GRCh38 |
| NC_000009.11:g.34648095G>A , CM000671.1:g.34648095G>A | GRCh37 |
| NC_000009.10:g.34638095G>A | NCBI36 |
| NG_009029.1:g.6461G>A | |
| NG_028966.1:g.914G>A | |
| NG_009029.2:g.6510G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*96-17G>A | ENSP00000509954.1:n.*96-17G>A | |
| ENST00000378842.8:c.508-17G>A MANE Select | ENSP00000368119.4:n.508-17G>A | |
| ENST00000378842.7:c.508-17G>A | ENSP00000368119.3:n.508-17G>A | |
| ENST00000450095.6:c.181-17G>A | ENSP00000401956.2:n.181-17G>A | |
| ENST00000465543.6:n.847-17G>A | ||
| ENST00000472111.5:n.764-17G>A | ||
| ENST00000473506.6:c.*96-17G>A | ENSP00000432839.2:n.*96-17G>A | |
| ENST00000473529.5:n.650G>A | ||
| ENST00000485531.1:n.1085G>A | ||
| ENST00000487381.5:n.893-17G>A | ||
| ENST00000489643.6:n.283-17G>A | ||
| ENST00000554085.5:c.*252-17G>A | ENSP00000450419.1:n.*252-17G>A | |
| ENST00000554139.5:n.737G>A | ||
| ENST00000554550.5:c.*128-17G>A | ENSP00000451435.1:n.*128-17G>A | |
| ENST00000554638.5:n.980-17G>A | ||
| ENST00000554897.5:c.*178G>A | ENSP00000450942.1:n.*178G>A | |
| ENST00000554944.5:n.840G>A | ||
| ENST00000555020.5:n.664-17G>A | ||
| ENST00000555086.5:n.512-17G>A | ||
| ENST00000555214.5:n.312G>A | ||
| ENST00000556244.1:c.495-17G>A | ||
| ENST00000556278.1:c.253-17G>A | ENSP00000451792.1:n.253-17G>A | |
| ENST00000556494.5:n.629-17G>A | ||
| ENST00000557706.5:n.1070-17G>A | ||
| NM_000155.3:c.508-17G>A | NP_000146.2:n.508-17G>A | |
| NM_001258332.1:c.181-17G>A | NP_001245261.1:n.181-17G>A | |
| NM_000155.4:c.508-17G>A MANE Select | NP_000146.2:n.508-17G>A | |
| NM_001258332.2:c.181-17G>A | NP_001245261.1:n.181-17G>A |