Linked Data
ClinVar Variation Id:
2759839
ClinVar RCV Id:
RCV003571869
dbSNP Id:
rs1453928061
gnomAD v2:
8-37623275-A-G
gnomAD v4:
8-37765757-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765757A>G , CM000670.2:g.37765757A>G | GRCh38 |
| NC_000008.10:g.37623275A>G , CM000670.1:g.37623275A>G | GRCh37 |
| NC_000008.9:g.37742433A>G | NCBI36 |
| NG_053030.1:g.9005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.243+11A>G MANE Select | ENSP00000333551.3:n.243+11A>G | |
| ENST00000328195.7:c.243+11A>G | ENSP00000333551.3:n.243+11A>G | |
| ENST00000518036.5:c.*95+11A>G | ENSP00000428005.1:n.*95+11A>G | |
| ENST00000520073.5:n.308+11A>G | ||
| ENST00000523187.5:c.87+11A>G | ENSP00000427886.1:n.87+11A>G | |
| ENST00000523358.5:c.243+11A>G | ENSP00000427778.1:n.243+11A>G | |
| ENST00000523994.1:n.248+11A>G | ||
| NM_007198.3:c.243+11A>G | NP_009129.1:n.243+11A>G | |
| NM_001349346.1:c.243+11A>G | NP_001336275.1:n.243+11A>G | |
| NM_001349347.1:c.237+11A>G | NP_001336276.1:n.237+11A>G | |
| NM_001349348.1:c.87+11A>G | NP_001336277.1:n.87+11A>G | |
| NM_001349349.1:c.348+11A>G | NP_001336278.1:n.348+11A>G | |
| NM_007198.4:c.243+11A>G MANE Select | NP_009129.1:n.243+11A>G | |
| NM_001349346.2:c.243+11A>G | NP_001336275.1:n.243+11A>G | |
| NM_001349347.2:c.237+11A>G | NP_001336276.1:n.237+11A>G | |
| NM_001349348.2:c.87+11A>G | NP_001336277.1:n.87+11A>G |