Linked Data
ClinVar Variation Id:
1508606
ClinVar RCV Id:
RCV002040462
dbSNP Id:
rs2144640859
gnomAD v4:
19-1401294-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401294A>G , CM000681.2:g.1401294A>G | GRCh38 |
| NC_000019.9:g.1401293A>G , CM000681.1:g.1401293A>G | GRCh37 |
| NC_000019.8:g.1352293A>G | NCBI36 |
| NG_009785.1:g.5260T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.181+2T>C MANE Select | ENSP00000252288.1:n.181+2T>C | |
| ENST00000447102.8:c.181+2T>C | ENSP00000403536.2:n.181+2T>C | |
| ENST00000640762.1:c.112+71T>C | ENSP00000492031.1:n.112+71T>C | |
| ENST00000252288.6:c.181+2T>C | ENSP00000252288.1:n.181+2T>C | |
| ENST00000447102.7:c.181+2T>C | ENSP00000403536.2:n.181+2T>C | |
| NM_000156.5:c.181+2T>C | NP_000147.1:n.181+2T>C | |
| NM_138924.2:c.181+2T>C | NP_620279.1:n.181+2T>C | |
| NM_000156.6:c.181+2T>C MANE Select | NP_000147.1:n.181+2T>C | |
| NM_138924.3:c.181+2T>C | NP_620279.1:n.181+2T>C |