gnomAD v2:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333555A>C , CM000673.2:g.47333555A>C | GRCh38 |
| NC_000011.9:g.47355106A>C , CM000673.1:g.47355106A>C | GRCh37 |
| NC_000011.8:g.47311682A>C | NCBI36 |
| NG_007667.1:g.24148T>G , LRG_386:g.24148T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3190+2T>G MANE Select | ENSP00000442795.1:n.3190+2T>G | |
| ENST00000256993.8:c.3190+2T>G | ENSP00000256993.5:n.3190+2T>G | |
| ENST00000399249.6:c.3190+2T>G | ENSP00000382193.2:n.3190+2T>G | |
| ENST00000545968.5:c.3190+2T>G | ENSP00000442795.1:n.3190+2T>G | |
| NM_000256.3:c.3190+2T>G , LRG_386t1:c.3190+2T>G MANE Select | NP_000247.2:n.3190+2T>G | |
| XM_011520117.1:c.3172+2T>G | XP_011518419.1:n.3172+2T>G | |
| XM_011520118.1:c.3109+2T>G | XP_011518420.1:n.3109+2T>G |