Linked Data
dbSNP Id:
rs1257714495
gnomAD v2:
11-63963834-C-T
gnomAD v3:
11-64196362-C-T
gnomAD v4:
11-64196362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64196362C>T , CM000673.2:g.64196362C>T | GRCh38 |
| NC_000011.9:g.63963834C>T , CM000673.1:g.63963834C>T | GRCh37 |
| NC_000011.8:g.63720410C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305218.9:c.672+549C>T MANE Select | ENSP00000305958.5:n.672+549C>T | |
| ENST00000305218.8:c.672+549C>T | ENSP00000305958.4:n.672+549C>T | |
| ENST00000358794.9:c.813+549C>T | ENSP00000351646.5:n.813+549C>T | |
| ENST00000536973.5:c.361+2032C>T | ENSP00000441036.1:n.361+2032C>T | |
| ENST00000538945.5:c.600+549C>T | ENSP00000445957.1:n.600+549C>T | |
| NM_001282652.1:c.813+549C>T | NP_001269581.1:n.813+549C>T | |
| NM_001282653.1:c.600+549C>T | NP_001269582.1:n.600+549C>T | |
| NM_006819.2:c.672+549C>T | NP_006810.1:n.672+549C>T | |
| NM_001282653.2:c.600+549C>T | NP_001269582.1:n.600+549C>T | |
| NM_006819.3:c.672+549C>T MANE Select | NP_006810.1:n.672+549C>T | |
| NM_001282652.2:c.813+549C>T | NP_001269581.1:n.813+549C>T |