Linked Data
ClinVar Variation Id:
417758
ClinVar RCV Id:
RCV000477671
dbSNP Id:
rs1064793002
gnomAD v4:
19-7456408-G-A
PubMed:
PMID:28132693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7456408G>A , CM000681.2:g.7456408G>A | GRCh38 |
| NC_000019.9:g.7521294G>A , CM000681.1:g.7521294G>A | GRCh37 |
| NC_000019.8:g.7427294G>A | NCBI36 |
| NG_047135.1:g.112498G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319670.14:c.1143+5G>A | ENSP00000319200.8:n.1143+5G>A | |
| ENST00000359920.11:c.1455+5G>A | ENSP00000352995.5:n.1455+5G>A | |
| ENST00000594665.2:c.1143+5G>A | ENSP00000470729.2:n.1143+5G>A | |
| ENST00000617428.4:c.1143+5G>A | ENSP00000482647.4:n.1143+5G>A | |
| ENST00000668164.2:c.2181+5G>A MANE Select | ENSP00000499655.2:n.2181+5G>A | |
| ENST00000319670.13:c.1143+5G>A | ENSP00000319200.7:n.1143+5G>A | |
| ENST00000359920.10:c.1617+5G>A | ENSP00000352995.4:n.1617+5G>A | |
| ENST00000594665.1:c.550+5G>A | ||
| ENST00000617428.2:c.1417+5G>A | ||
| NM_001130955.1:c.1617+5G>A | NP_001124427.1:n.1617+5G>A | |
| NM_015318.3:c.1143+5G>A | NP_056133.2:n.1143+5G>A | |
| XM_005272464.3:c.2376+5G>A | XP_005272521.1:n.2376+5G>A | |
| XM_006722705.2:c.2181+5G>A | XP_006722768.1:n.2181+5G>A | |
| XM_006722706.2:c.2181+5G>A | XP_006722769.1:n.2181+5G>A | |
| XM_006722708.2:c.1143+5G>A | XP_006722771.1:n.1143+5G>A | |
| XM_006722709.2:c.1143+5G>A | XP_006722772.1:n.1143+5G>A | |
| XM_011527835.1:c.2376+5G>A | XP_011526137.1:n.2376+5G>A | |
| XM_011527836.1:c.2376+5G>A | XP_011526138.1:n.2376+5G>A | |
| XM_011527837.1:c.2376+5G>A | XP_011526139.1:n.2376+5G>A | |
| XM_011527838.1:c.2181+5G>A | XP_011526140.1:n.2181+5G>A | |
| XM_011527839.1:c.2133+5G>A | XP_011526141.1:n.2133+5G>A | |
| XM_011527840.1:c.1143+5G>A | XP_011526142.1:n.1143+5G>A | |
| XM_011527841.1:c.2376+5G>A | XP_011526143.1:n.2376+5G>A | |
| XM_005272464.4:c.2376+5G>A | XP_005272521.1:n.2376+5G>A | |
| XM_006722705.3:c.2181+5G>A | XP_006722768.1:n.2181+5G>A | |
| XM_006722706.3:c.2181+5G>A | XP_006722769.1:n.2181+5G>A | |
| XM_011527835.2:c.2376+5G>A | XP_011526137.1:n.2376+5G>A | |
| XM_011527836.2:c.2376+5G>A | XP_011526138.1:n.2376+5G>A | |
| XM_011527837.2:c.2376+5G>A | XP_011526139.1:n.2376+5G>A | |
| XM_011527838.3:c.2181+5G>A | XP_011526140.1:n.2181+5G>A | |
| XM_011527839.2:c.2133+5G>A | XP_011526141.1:n.2133+5G>A | |
| XM_011527840.2:c.1143+5G>A | XP_011526142.1:n.1143+5G>A | |
| XM_011527841.2:c.2376+5G>A | XP_011526143.1:n.2376+5G>A | |
| NM_001130955.2:c.1455+5G>A | NP_001124427.2:n.1455+5G>A | |
| NM_001367823.1:c.2181+5G>A MANE Select | NP_001354752.1:n.2181+5G>A | |
| NM_001367824.1:c.1143+5G>A | NP_001354753.1:n.1143+5G>A | |
| NM_015318.4:c.1143+5G>A | NP_056133.2:n.1143+5G>A |