Linked Data
dbSNP Id:
rs966454529
gnomAD v2:
13-20766753-C-A
gnomAD v3:
13-20192614-C-A
gnomAD v4:
13-20192614-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192614C>A , CM000675.2:g.20192614C>A | GRCh38 |
| NC_000013.10:g.20766753C>A , CM000675.1:g.20766753C>A | GRCh37 |
| NC_000013.9:g.19664753C>A | NCBI36 |
| NG_008358.1:g.5362G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+169G>T MANE Select | ENSP00000372299.4:n.-23+169G>T | |
| ENST00000382848.4:c.-23+169G>T | ENSP00000372299.4:n.-23+169G>T | |
| NM_004004.5:c.-23+169G>T | NP_003995.2:n.-23+169G>T | |
| NM_004004.6:c.-23+169G>T MANE Select | NP_003995.2:n.-23+169G>T |