Linked Data
dbSNP Id:
rs755050153
ExAC:
13:28498373 A / T
gnomAD v2:
13-28498373-A-T
gnomAD v3:
13-27924236-A-T
gnomAD v4:
13-27924236-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924236A>T , CM000675.2:g.27924236A>T | GRCh38 |
| NC_000013.10:g.28498373A>T , CM000675.1:g.28498373A>T | GRCh37 |
| NC_000013.9:g.27396373A>T | NCBI36 |
| NG_008183.1:g.9206A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.407-20A>T MANE Select | ENSP00000370421.4:n.407-20A>T | |
| ENST00000381033.4:c.407-20A>T | ENSP00000370421.4:n.407-20A>T | |
| NM_000209.3:c.407-20A>T | NP_000200.1:n.407-20A>T | |
| XR_941578.1:n.3534-20A>T | ||
| XR_941579.1:n.2133-20A>T | ||
| XR_941580.1:n.1049-20A>T | ||
| XR_941578.2:n.3546-20A>T | ||
| XR_941580.2:n.1061-20A>T | ||
| NM_000209.4:c.407-20A>T MANE Select | NP_000200.1:n.407-20A>T |