Linked Data
dbSNP Id:
rs284
gnomAD v2:
8-19815106-T-C
gnomAD v3:
8-19957595-T-C
gnomAD v4:
8-19957595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957595T>C , CM000670.2:g.19957595T>C | GRCh38 |
| NC_000008.10:g.19815106T>C , CM000670.1:g.19815106T>C | GRCh37 |
| NC_000008.9:g.19859386T>C | NCBI36 |
| NG_008855.1:g.23525T>C | |
| NG_008855.2:g.60879T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1512T>C MANE Select | ENSP00000497642.1:n.1018+1512T>C | |
| ENST00000650478.1:c.79+1512T>C | ENSP00000497560.1:n.79+1512T>C | |
| ENST00000311322.8:c.1018+1512T>C | ENSP00000309757.6:n.1018+1512T>C | |
| NM_000237.2:c.1018+1512T>C | NP_000228.1:n.1018+1512T>C | |
| NM_000237.3:c.1018+1512T>C MANE Select | NP_000228.1:n.1018+1512T>C |