Linked Data
ClinVar Variation Id:
346948
dbSNP Id:
rs184213166
gnomAD v2:
3-97517363-G-A
gnomAD v3:
3-97798519-G-A
gnomAD v4:
3-97798519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97798519G>A , CM000665.2:g.97798519G>A | GRCh38 |
| NC_000003.11:g.97517363G>A , CM000665.1:g.97517363G>A | GRCh37 |
| NC_000003.10:g.99000053G>A | NCBI36 |
| NG_008119.1:g.38769G>A | |
| NG_008119.2:g.38769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462412.3:c.*470G>A | ENSP00000418740.2:n.*470G>A | |
| ENST00000463745.6:c.*470G>A MANE Select | ENSP00000419619.1:n.*470G>A | |
| ENST00000335979.6:c.*470G>A | ENSP00000337722.2:n.*470G>A | |
| ENST00000394206.5:c.*470G>A | ENSP00000377756.1:n.*470G>A | |
| ENST00000463745.5:c.*470G>A | ENSP00000419619.1:n.*470G>A | |
| ENST00000476753.1:c.659G>A | ||
| ENST00000493990.5:c.*154+316G>A | ENSP00000418057.1:n.*154+316G>A | |
| ENST00000494363.1:n.211+316G>A | ||
| NM_001278293.1:c.*470G>A | NP_001265222.1:n.*470G>A | |
| NM_032146.4:c.*470G>A | NP_115522.1:n.*470G>A | |
| NM_177976.2:c.*470G>A | NP_816931.1:n.*470G>A | |
| NR_103511.1:n.1298+316G>A | ||
| XM_006713779.2:c.*462G>A | XP_006713842.1:n.*462G>A | |
| XM_006713783.2:c.*495G>A | XP_006713846.1:n.*495G>A | |
| XR_924184.1:n.1719G>A | ||
| XR_924185.1:n.1825G>A | ||
| XR_924186.1:n.1872G>A | ||
| XR_924187.1:n.1403+316G>A | ||
| XR_924188.1:n.1773G>A | ||
| XR_924189.1:n.1403+316G>A | ||
| NM_001278293.2:c.*470G>A | NP_001265222.1:n.*470G>A | |
| NM_001323513.1:c.*462G>A | NP_001310442.1:n.*462G>A | |
| NM_001323514.1:c.*495G>A | NP_001310443.1:n.*495G>A | |
| NM_032146.5:c.*470G>A | NP_115522.1:n.*470G>A | |
| NM_177976.3:c.*470G>A | NP_816931.1:n.*470G>A | |
| NR_136595.1:n.2184G>A | ||
| NR_136597.1:n.2072G>A | ||
| NR_136598.1:n.1519G>A | ||
| NR_136600.1:n.1212+316G>A | ||
| NR_136601.1:n.1199+316G>A | ||
| NR_136602.1:n.1143+316G>A | ||
| XM_017007311.2:c.*470G>A | XP_016862800.1:n.*470G>A | |
| XM_017007312.2:c.*495G>A | XP_016862801.1:n.*495G>A | |
| XR_001740319.2:n.3355+316G>A | ||
| XR_001740321.2:n.3139+316G>A | ||
| XR_002959599.1:n.4071G>A | ||
| XR_924184.3:n.3671G>A | ||
| XR_924185.3:n.3770G>A | ||
| XR_924186.3:n.3829G>A | ||
| XR_924187.3:n.3355+316G>A | ||
| XR_924188.3:n.3730G>A | ||
| XR_924189.3:n.3355+316G>A | ||
| NM_001278293.3:c.*470G>A MANE Select | NP_001265222.1:n.*470G>A | |
| NM_001323513.2:c.*462G>A | NP_001310442.1:n.*462G>A | |
| NM_001323514.2:c.*495G>A | NP_001310443.1:n.*495G>A | |
| NR_103511.2:n.1061+316G>A | ||
| NR_136595.2:n.1947G>A | ||
| NR_136597.2:n.1835G>A | ||
| NR_136598.2:n.1282G>A | ||
| NR_136600.2:n.975+316G>A | ||
| NR_136601.2:n.962+316G>A | ||
| NR_136602.2:n.906+316G>A | ||
| NR_103511.3:n.1061+316G>A | ||
| NR_136600.3:n.975+316G>A | ||
| NR_136601.3:n.962+316G>A | ||
| NR_136602.3:n.906+316G>A |