Linked Data
dbSNP Id:
rs1358371985
gnomAD v2:
6-24528138-A-C
gnomAD v3:
6-24527910-A-C
gnomAD v4:
6-24527910-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24527910A>C , CM000668.2:g.24527910A>C | GRCh38 |
| NC_000006.11:g.24528138A>C , CM000668.1:g.24528138A>C | GRCh37 |
| NC_000006.10:g.24636117A>C | NCBI36 |
| NG_008161.1:g.37942A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1174-87A>C MANE Select | ENSP00000350191.3:n.1174-87A>C | |
| ENST00000479394.2:n.289-87A>C | ||
| ENST00000672352.1:c.793-87A>C | ENSP00000500876.1:n.793-87A>C | |
| ENST00000672652.1:c.1137-87A>C | ||
| ENST00000348925.2:c.1213-87A>C | ENSP00000314649.3:n.1213-87A>C | |
| ENST00000357578.7:c.1174-87A>C | ENSP00000350191.3:n.1174-87A>C | |
| ENST00000479394.1:n.289-87A>C | ||
| ENST00000491546.5:c.1090-87A>C | ENSP00000417687.1:n.1090-87A>C | |
| NM_001080.3:c.1174-87A>C MANE Select | NP_001071.1:n.1174-87A>C | |
| NM_170740.1:c.1213-87A>C | NP_733936.1:n.1213-87A>C | |
| NM_001368954.1:c.1030-87A>C | NP_001355883.1:n.1030-87A>C |