Linked Data
dbSNP Id:
rs779305518
ExAC:
22:44324775 T / C
gnomAD v2:
22-44324775-T-C
gnomAD v4:
22-43928895-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928895T>C , CM000684.2:g.43928895T>C | GRCh38 |
| NC_000022.10:g.44324775T>C , CM000684.1:g.44324775T>C | GRCh37 |
| NC_000022.9:g.42656108T>C | NCBI36 |
| NG_008631.1:g.10157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.486+6T>C MANE Select | ENSP00000216180.3:n.486+6T>C | |
| ENST00000216180.7:c.486+6T>C | ENSP00000216180.3:n.486+6T>C | |
| ENST00000406117.6:c.*118+6T>C | ENSP00000384668.2:n.*118+6T>C | |
| ENST00000423180.2:c.474+6T>C | ENSP00000397987.2:n.474+6T>C | |
| ENST00000478713.1:n.520+6T>C | ||
| NM_025225.2:c.486+6T>C | NP_079501.2:n.486+6T>C | |
| NM_025225.3:c.486+6T>C MANE Select | NP_079501.2:n.486+6T>C |