Linked Data
ClinVar Variation Id:
214387
ClinVar RCV Id:
RCV000196540
dbSNP Id:
rs863223978
gnomAD v4:
1-241497971-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241497971C>G , CM000663.2:g.241497971C>G | GRCh38 |
| NC_000001.10:g.241661271C>G , CM000663.1:g.241661271C>G | GRCh37 |
| NC_000001.9:g.239727894C>G | NCBI36 |
| NG_012338.1:g.26784G>C , LRG_504:g.26784G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1894-1G>C | ||
| ENST00000682162.1:c.1420-1G>C | ENSP00000508203.1:n.1420-1G>C | |
| ENST00000682567.1:n.4791-1G>C | ||
| ENST00000684161.1:n.2606-1G>C | ||
| ENST00000684483.1:c.*787-1G>C | ENSP00000507894.1:n.*787-1G>C | |
| ENST00000366560.4:c.1391-1G>C MANE Select | ENSP00000355518.4:n.1391-1G>C | |
| ENST00000366560.3:c.1391-1G>C | ENSP00000355518.3:n.1391-1G>C | |
| NM_000143.3:c.1391-1G>C , LRG_504t1:c.1391-1G>C | NP_000134.2:n.1391-1G>C | |
| XM_011544132.1:c.1163-1G>C | XP_011542434.1:n.1163-1G>C | |
| XM_011544132.2:c.1163-1G>C | XP_011542434.1:n.1163-1G>C | |
| NM_000143.4:c.1391-1G>C MANE Select | NP_000134.2:n.1391-1G>C |