Linked Data
dbSNP Id:
rs953231332
gnomAD v2:
6-24528517-T-C
gnomAD v3:
6-24528289-T-C
gnomAD v4:
6-24528289-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528289T>C , CM000668.2:g.24528289T>C | GRCh38 |
| NC_000006.11:g.24528517T>C , CM000668.1:g.24528517T>C | GRCh37 |
| NC_000006.10:g.24636496T>C | NCBI36 |
| NG_008161.1:g.38321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1343+123T>C MANE Select | ENSP00000350191.3:n.1343+123T>C | |
| ENST00000479394.2:n.458+123T>C | ||
| ENST00000672352.1:c.962+123T>C | ENSP00000500876.1:n.962+123T>C | |
| ENST00000672652.1:c.1306+123T>C | ||
| ENST00000348925.2:c.1382+123T>C | ENSP00000314649.3:n.1382+123T>C | |
| ENST00000357578.7:c.1343+123T>C | ENSP00000350191.3:n.1343+123T>C | |
| ENST00000479394.1:n.458+123T>C | ||
| ENST00000491546.5:c.1259+123T>C | ENSP00000417687.1:n.1259+123T>C | |
| NM_001080.3:c.1343+123T>C MANE Select | NP_001071.1:n.1343+123T>C | |
| NM_170740.1:c.1382+123T>C | NP_733936.1:n.1382+123T>C | |
| NM_001368954.1:c.1199+123T>C | NP_001355883.1:n.1199+123T>C |