Linked Data
ClinVar Variation Id:
1612144
ClinVar RCV Id:
RCV002168412
dbSNP Id:
rs573124827
gnomAD v2:
8-43048997-A-G
gnomAD v4:
8-43193854-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193854A>G , CM000670.2:g.43193854A>G | GRCh38 |
| NC_000008.10:g.43048997A>G , CM000670.1:g.43048997A>G | GRCh37 |
| NC_000008.9:g.43168154A>G | NCBI36 |
| NG_009552.1:g.58406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1464+11A>G MANE Select | ENSP00000368965.4:n.1464+11A>G | |
| ENST00000379644.8:c.1464+11A>G | ENSP00000368965.4:n.1464+11A>G | |
| ENST00000520678.1:n.408A>G | ||
| ENST00000521576.1:c.615+11A>G | ENSP00000429029.1:n.615+11A>G | |
| ENST00000524016.5:c.568+11A>G | ||
| NM_152419.2:c.1464+11A>G | NP_689632.2:n.1464+11A>G | |
| XM_005273409.1:c.1464+11A>G | XP_005273466.1:n.1464+11A>G | |
| XM_005273410.1:c.1464+11A>G | XP_005273467.1:n.1464+11A>G | |
| XM_005273411.1:c.1272+11A>G | XP_005273468.1:n.1272+11A>G | |
| XM_005273412.2:c.1464+11A>G | XP_005273469.1:n.1464+11A>G | |
| NM_001363227.1:c.1464+11A>G | NP_001350156.1:n.1464+11A>G | |
| NM_001363228.1:c.1272+11A>G | NP_001350157.1:n.1272+11A>G | |
| NM_001363229.1:c.600+11A>G | NP_001350158.1:n.600+11A>G | |
| XM_005273412.4:c.1464+11A>G | XP_005273469.1:n.1464+11A>G | |
| NM_152419.3:c.1464+11A>G MANE Select | NP_689632.2:n.1464+11A>G | |
| NM_001363227.2:c.1464+11A>G | NP_001350156.1:n.1464+11A>G | |
| NM_001363228.2:c.1272+11A>G | NP_001350157.1:n.1272+11A>G | |
| NM_001363229.2:c.600+11A>G | NP_001350158.1:n.600+11A>G |