Linked Data
dbSNP Id:
rs748284776
ExAC:
9:80409359 C / T
gnomAD v2:
9-80409359-C-T
gnomAD v3:
9-77794443-C-T
gnomAD v4:
9-77794443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794443C>T , CM000671.2:g.77794443C>T | GRCh38 |
| NC_000009.11:g.80409359C>T , CM000671.1:g.80409359C>T | GRCh37 |
| NC_000009.10:g.79599179C>T | NCBI36 |
| NG_027904.2:g.241861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.735+20G>A MANE Select | ENSP00000286548.4:n.735+20G>A | |
| ENST00000286548.8:c.735+20G>A | ENSP00000286548.4:n.735+20G>A | |
| NM_002072.4:c.735+20G>A | NP_002063.2:n.735+20G>A | |
| XM_017014628.2:c.561+20G>A | XP_016870117.1:n.561+20G>A | |
| NM_002072.5:c.735+20G>A MANE Select | NP_002063.2:n.735+20G>A |