Linked Data
ClinVar Variation Id:
488173
dbSNP Id:
rs201629454
gnomAD v2:
14-50619778-T-C
gnomAD v3:
14-50153060-T-C
gnomAD v4:
14-50153060-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50153060T>C , CM000676.2:g.50153060T>C | GRCh38 |
| NC_000014.8:g.50619778T>C , CM000676.1:g.50619778T>C | GRCh37 |
| NC_000014.7:g.49689528T>C | NCBI36 |
| NG_051073.1:g.83634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2161+10A>G MANE Select | ENSP00000216373.5:n.2161+10A>G | |
| ENST00000216373.9:c.2161+10A>G | ENSP00000216373.5:n.2161+10A>G | |
| ENST00000543680.5:c.2062+10A>G | ENSP00000445328.1:n.2062+10A>G | |
| NM_006939.2:c.2161+10A>G | NP_008870.2:n.2161+10A>G | |
| XM_005268021.1:c.1981+10A>G | XP_005268078.1:n.1981+10A>G | |
| XM_011537103.1:c.2122+10A>G | XP_011535405.1:n.2122+10A>G | |
| XM_011537104.1:c.2161+10A>G | XP_011535406.1:n.2161+10A>G | |
| NM_006939.3:c.2161+10A>G | NP_008870.2:n.2161+10A>G | |
| NM_006939.4:c.2161+10A>G MANE Select | NP_008870.2:n.2161+10A>G |