Linked Data
ClinVar Variation Id:
495667
ClinVar RCV Id:
RCV000587340
dbSNP Id:
rs41292410
ExAC:
17:78092195 G / A
gnomAD v2:
17-78092195-G-A
gnomAD v3:
17-80118396-G-A
gnomAD v4:
17-80118396-G-A
PubMed:
PMID:22644586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118396G>A , CM000679.2:g.80118396G>A | GRCh38 |
| NC_000017.10:g.78092195G>A , CM000679.1:g.78092195G>A | GRCh37 |
| NC_000017.9:g.75706790G>A | NCBI36 |
| NG_009822.1:g.21841G>A , LRG_673:g.21841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2646+39G>A | ENSP00000460543.2:n.2646+39G>A | |
| ENST00000572080.2:c.*784+39G>A | ENSP00000459972.2:n.*784+39G>A | |
| ENST00000577106.6:c.2646+39G>A | ENSP00000458306.2:n.2646+39G>A | |
| ENST00000302262.8:c.2646+39G>A MANE Select | ENSP00000305692.3:n.2646+39G>A | |
| ENST00000302262.7:c.2646+39G>A | ENSP00000305692.3:n.2646+39G>A | |
| ENST00000390015.7:c.2646+39G>A | ENSP00000374665.3:n.2646+39G>A | |
| ENST00000573556.1:n.599+39G>A | ||
| NM_000152.3:c.2646+39G>A , LRG_673t1:c.2646+39G>A | NP_000143.2:n.2646+39G>A | |
| NM_001079803.1:c.2646+39G>A | NP_001073271.1:n.2646+39G>A | |
| NM_001079804.1:c.2646+39G>A | NP_001073272.1:n.2646+39G>A | |
| XM_005257193.1:c.2646+39G>A | XP_005257250.1:n.2646+39G>A | |
| XM_005257194.3:c.2646+39G>A | XP_005257251.1:n.2646+39G>A | |
| NM_000152.4:c.2646+39G>A | NP_000143.2:n.2646+39G>A | |
| NM_001079803.2:c.2646+39G>A | NP_001073271.1:n.2646+39G>A | |
| NM_001079804.2:c.2646+39G>A | NP_001073272.1:n.2646+39G>A | |
| XM_005257193.2:c.2646+39G>A | XP_005257250.1:n.2646+39G>A | |
| XM_005257194.4:c.2646+39G>A | XP_005257251.1:n.2646+39G>A | |
| NM_000152.5:c.2646+39G>A MANE Select | NP_000143.2:n.2646+39G>A | |
| NM_001079803.3:c.2646+39G>A | NP_001073271.1:n.2646+39G>A | |
| NM_001079804.3:c.2646+39G>A | NP_001073272.1:n.2646+39G>A |