Linked Data
dbSNP Id:
rs776377100
gnomAD v2:
11-63963733-T-C
gnomAD v3:
11-64196261-T-C
gnomAD v4:
11-64196261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64196261T>C , CM000673.2:g.64196261T>C | GRCh38 |
| NC_000011.9:g.63963733T>C , CM000673.1:g.63963733T>C | GRCh37 |
| NC_000011.8:g.63720309T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305218.9:c.672+448T>C MANE Select | ENSP00000305958.5:n.672+448T>C | |
| ENST00000305218.8:c.672+448T>C | ENSP00000305958.4:n.672+448T>C | |
| ENST00000358794.9:c.813+448T>C | ENSP00000351646.5:n.813+448T>C | |
| ENST00000536973.5:c.361+1931T>C | ENSP00000441036.1:n.361+1931T>C | |
| ENST00000538945.5:c.600+448T>C | ENSP00000445957.1:n.600+448T>C | |
| NM_001282652.1:c.813+448T>C | NP_001269581.1:n.813+448T>C | |
| NM_001282653.1:c.600+448T>C | NP_001269582.1:n.600+448T>C | |
| NM_006819.2:c.672+448T>C | NP_006810.1:n.672+448T>C | |
| NM_001282653.2:c.600+448T>C | NP_001269582.1:n.600+448T>C | |
| NM_006819.3:c.672+448T>C MANE Select | NP_006810.1:n.672+448T>C | |
| NM_001282652.2:c.813+448T>C | NP_001269581.1:n.813+448T>C |