Linked Data
dbSNP Id:
rs323
gnomAD v2:
8-19819221-A-C
gnomAD v3:
8-19961710-A-C
gnomAD v4:
8-19961710-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961710A>C , CM000670.2:g.19961710A>C | GRCh38 |
| NC_000008.10:g.19819221A>C , CM000670.1:g.19819221A>C | GRCh37 |
| NC_000008.9:g.19863501A>C | NCBI36 |
| NG_008855.1:g.27640A>C | |
| NG_008855.2:g.64994A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1323-405A>C MANE Select | ENSP00000497642.1:n.1323-405A>C | |
| ENST00000650478.1:c.263-405A>C | ENSP00000497560.1:n.263-405A>C | |
| ENST00000311322.8:c.1323-405A>C | ENSP00000309757.6:n.1323-405A>C | |
| NM_000237.2:c.1323-405A>C | NP_000228.1:n.1323-405A>C | |
| NM_000237.3:c.1323-405A>C MANE Select | NP_000228.1:n.1323-405A>C |