Linked Data
ClinVar Variation Id:
1955150
ClinVar RCV Id:
RCV002715210
dbSNP Id:
rs1462958977
gnomAD v4:
14-50180553-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180553A>C , CM000676.2:g.50180553A>C | GRCh38 |
| NC_000014.8:g.50647271A>C , CM000676.1:g.50647271A>C | GRCh37 |
| NC_000014.7:g.49717021A>C | NCBI36 |
| NG_051073.1:g.56141T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.969+19T>G MANE Select | ENSP00000216373.5:n.969+19T>G | |
| ENST00000216373.9:c.969+19T>G | ENSP00000216373.5:n.969+19T>G | |
| ENST00000543680.5:c.969+19T>G | ENSP00000445328.1:n.969+19T>G | |
| ENST00000555794.2:c.83+19T>G | ||
| NM_006939.2:c.969+19T>G | NP_008870.2:n.969+19T>G | |
| XM_005268021.1:c.789+19T>G | XP_005268078.1:n.789+19T>G | |
| XM_011537103.1:c.930+19T>G | XP_011535405.1:n.930+19T>G | |
| XM_011537104.1:c.969+19T>G | XP_011535406.1:n.969+19T>G | |
| XR_943842.1:n.954-3234A>C | ||
| XR_943843.1:n.954-3234A>C | ||
| NM_006939.3:c.969+19T>G | NP_008870.2:n.969+19T>G | |
| NM_006939.4:c.969+19T>G MANE Select | NP_008870.2:n.969+19T>G |