Linked Data
dbSNP Id:
rs748080258
ExAC:
17:27822550 T / G
gnomAD v2:
17-27822550-T-G
gnomAD v3:
17-29495532-T-G
gnomAD v4:
17-29495532-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495532T>G , CM000679.2:g.29495532T>G | GRCh38 |
| NC_000017.10:g.27822550T>G , CM000679.1:g.27822550T>G | GRCh37 |
| NC_000017.9:g.24846676T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.832-28T>G MANE Select | ENSP00000261716.3:n.832-28T>G | |
| ENST00000261716.7:c.832-28T>G | ENSP00000261716.3:n.832-28T>G | |
| ENST00000536202.1:c.832-28T>G | ENSP00000438819.1:n.832-28T>G | |
| ENST00000577583.1:n.680-28T>G | ||
| NM_020791.2:c.832-28T>G | NP_065842.1:n.832-28T>G | |
| NM_025142.1:c.832-28T>G | NP_079418.1:n.832-28T>G | |
| XM_011525060.1:c.832-28T>G | XP_011523362.1:n.832-28T>G | |
| XM_011525060.2:c.832-28T>G | XP_011523362.1:n.832-28T>G | |
| NM_020791.4:c.832-28T>G MANE Select | NP_065842.1:n.832-28T>G |