Linked Data
dbSNP Id:
rs748669066
ExAC:
9:2647597 G / A
gnomAD v2:
9-2647597-G-A
gnomAD v3:
9-2647597-G-A
gnomAD v4:
9-2647597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2647597G>A , CM000671.2:g.2647597G>A | GRCh38 |
| NC_000009.11:g.2647597G>A , CM000671.1:g.2647597G>A | GRCh37 |
| NC_000009.10:g.2637597G>A | NCBI36 |
| NG_012741.1:g.30805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1380+5G>A | ||
| ENST00000382100.8:c.1822+5G>A MANE Select | ENSP00000371532.2:n.1822+5G>A | |
| ENST00000478776.2:n.1272G>A | ||
| ENST00000679488.1:n.317G>A | ||
| ENST00000679718.1:n.1058+5G>A | ||
| ENST00000679750.1:n.1238+5G>A | ||
| ENST00000679851.1:n.2011G>A | ||
| ENST00000680021.1:n.2022+5G>A | ||
| ENST00000680043.1:c.1374+5G>A | ||
| ENST00000680219.1:c.1389+5G>A | ||
| ENST00000680243.1:c.*1601+5G>A | ENSP00000505911.1:n.*1601+5G>A | |
| ENST00000680296.1:c.1248+5G>A | ||
| ENST00000680332.1:n.845G>A | ||
| ENST00000680746.1:c.1699+5G>A | ENSP00000505030.1:n.1699+5G>A | |
| ENST00000680751.1:n.1227+5G>A | ||
| ENST00000680891.1:c.*1614+5G>A | ENSP00000505167.1:n.*1614+5G>A | |
| ENST00000680975.1:n.1207+5G>A | ||
| ENST00000681087.1:n.1267+5G>A | ||
| ENST00000681306.1:c.1822+5G>A | ENSP00000506072.1:n.1822+5G>A | |
| ENST00000681618.1:c.1699+5G>A | ENSP00000505773.1:n.1699+5G>A | |
| ENST00000681644.1:c.*1494+5G>A | ENSP00000505180.1:n.*1494+5G>A | |
| ENST00000681806.1:c.*260+5G>A | ENSP00000505282.1:n.*260+5G>A | |
| ENST00000681942.1:c.1305+5G>A | ||
| ENST00000382099.2:c.1822+5G>A | ENSP00000371531.2:n.1822+5G>A | |
| ENST00000382100.7:c.1822+5G>A | ENSP00000371532.2:n.1822+5G>A | |
| ENST00000478776.1:n.339G>A | ||
| NM_001018056.1:c.1822+5G>A | NP_001018066.1:n.1822+5G>A | |
| NM_003383.3:c.1822+5G>A | NP_003374.3:n.1822+5G>A | |
| XM_011518029.1:c.1699+5G>A | XP_011516331.1:n.1699+5G>A | |
| NM_001018056.2:c.1822+5G>A | NP_001018066.1:n.1822+5G>A | |
| NM_001322225.1:c.1699+5G>A | NP_001309154.1:n.1699+5G>A | |
| NM_001322226.1:c.1699+5G>A | NP_001309155.1:n.1699+5G>A | |
| NM_003383.4:c.1822+5G>A | NP_003374.3:n.1822+5G>A | |
| XR_001746373.2:n.2161+5G>A | ||
| XR_002956805.1:n.2161+5G>A | ||
| NM_003383.5:c.1822+5G>A MANE Select | NP_003374.3:n.1822+5G>A | |
| NM_001018056.3:c.1822+5G>A | NP_001018066.1:n.1822+5G>A | |
| NM_001322225.2:c.1699+5G>A | NP_001309154.1:n.1699+5G>A | |
| NM_001322226.2:c.1699+5G>A | NP_001309155.1:n.1699+5G>A |