Linked Data
dbSNP Id:
rs755045355
ExAC:
6:24503703 A / C
gnomAD v2:
6-24503703-A-C
gnomAD v4:
6-24503475-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503475A>C , CM000668.2:g.24503475A>C | GRCh38 |
| NC_000006.11:g.24503703A>C , CM000668.1:g.24503703A>C | GRCh37 |
| NC_000006.10:g.24611682A>C | NCBI36 |
| NG_008161.1:g.13507A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.609+42A>C MANE Select | ENSP00000350191.3:n.609+42A>C | |
| ENST00000672352.1:c.372+42A>C | ENSP00000500876.1:n.372+42A>C | |
| ENST00000672557.1:c.527+42A>C | ||
| ENST00000672652.1:c.530+42A>C | ||
| ENST00000675422.1:n.1369+42A>C | ||
| ENST00000348925.2:c.609+42A>C | ENSP00000314649.3:n.609+42A>C | |
| ENST00000357578.7:c.609+42A>C | ENSP00000350191.3:n.609+42A>C | |
| ENST00000491546.5:c.525+42A>C | ENSP00000417687.1:n.525+42A>C | |
| NM_001080.3:c.609+42A>C MANE Select | NP_001071.1:n.609+42A>C | |
| NM_170740.1:c.609+42A>C | NP_733936.1:n.609+42A>C | |
| NM_001368954.1:c.609+42A>C | NP_001355883.1:n.609+42A>C |