Linked Data
ClinVar Variation Id:
350618
ClinVar RCV Id:
RCV000339403
dbSNP Id:
rs886059859
gnomAD v4:
5-126822778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126822778T>C , CM000667.2:g.126822778T>C | GRCh38 |
| NC_000005.9:g.126158470T>C , CM000667.1:g.126158470T>C | GRCh37 |
| NC_000005.8:g.126186369T>C | NCBI36 |
| NG_008360.2:g.50638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.1387-3T>C MANE Select | ENSP00000261366.5:n.1387-3T>C | |
| ENST00000261366.9:c.1387-3T>C | ENSP00000261366.5:n.1387-3T>C | |
| ENST00000460265.5:c.*475-3T>C | ENSP00000486528.1:n.*475-3T>C | |
| ENST00000504788.5:n.1120-3T>C | ||
| NM_001198557.1:c.757-3T>C | NP_001185486.1:n.757-3T>C | |
| NM_005573.3:c.1387-3T>C | NP_005564.1:n.1387-3T>C | |
| XR_948250.1:n.1829-3T>C | ||
| NR_134488.1:n.2351-3T>C | ||
| NM_005573.4:c.1387-3T>C MANE Select | NP_005564.1:n.1387-3T>C | |
| NM_001198557.2:c.757-3T>C | NP_001185486.1:n.757-3T>C |