Linked Data
dbSNP Id:
rs1759250382
gnomAD v3:
6-24503418-T-C
gnomAD v4:
6-24503418-T-C
MyVariant Identifiers:
chr6:g.24503646T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503418T>C , CM000668.2:g.24503418T>C | GRCh38 |
| NC_000006.11:g.24503646T>C , CM000668.1:g.24503646T>C | GRCh37 |
| NC_000006.10:g.24611625T>C | NCBI36 |
| NG_008161.1:g.13450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.594T>C MANE Select | ENSP00000350191.3:p.Ala198= | |
| ENST00000672352.1:c.357T>C | ENSP00000500876.1:p.Ala119= | |
| ENST00000672557.1:c.512T>C | ||
| ENST00000672652.1:c.515T>C | ||
| ENST00000675422.1:n.1354T>C | ||
| ENST00000348925.2:c.594T>C | ENSP00000314649.3:p.Ala198= | |
| ENST00000357578.7:c.594T>C | ENSP00000350191.3:p.Ala198= | |
| ENST00000491546.5:c.510T>C | ENSP00000417687.1:p.Ala170= | |
| NM_001080.3:c.594T>C MANE Select | NP_001071.1:p.Ala198= | |
| NM_170740.1:c.594T>C | NP_733936.1:p.Ala198= | |
| NM_001368954.1:c.594T>C | NP_001355883.1:p.Ala198= |