Linked Data
dbSNP Id:
rs11964254
gnomAD v2:
6-29910122-C-A
gnomAD v3:
6-29942345-C-A
gnomAD v4:
6-29942345-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942345C>A , CM000668.2:g.29942345C>A | GRCh38 |
| NC_000006.11:g.29910122C>A , CM000668.1:g.29910122C>A | GRCh37 |
| NC_000006.10:g.30018101C>A | NCBI36 |
| NG_029217.2:g.4880C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706892.1:n.127-59C>A | ||
| ENST00000706893.1:c.-150-59C>A | ENSP00000516609.1:n.-150-59C>A | |
| ENST00000706894.1:c.-150-59C>A | ENSP00000516610.1:n.-150-59C>A | |
| ENST00000706895.1:n.127-59C>A | ||
| ENST00000706896.1:n.127-59C>A | ||
| ENST00000706897.1:n.127-59C>A | ||
| ENST00000706898.1:c.-150-59C>A | ENSP00000516611.1:n.-150-59C>A | |
| ENST00000706899.1:n.127-59C>A | ||
| ENST00000706901.1:c.-150-59C>A | ENSP00000516612.1:n.-150-59C>A | |
| ENST00000706902.1:c.-150-59C>A | ENSP00000516613.1:n.-150-59C>A | |
| ENST00000706903.1:c.-150-59C>A | ENSP00000516614.1:n.-150-59C>A | |
| ENST00000706904.1:c.-150-59C>A | ENSP00000516615.1:n.-150-59C>A | |
| ENST00000706905.1:c.-209C>A | ENSP00000516616.1:n.-209C>A | |
| ENST00000376806.9:c.-209C>A | ENSP00000366002.5:n.-209C>A | |
| ENST00000396634.5:c.-150-59C>A | ENSP00000379873.1:n.-150-59C>A | |
| ENST00000429656.1:n.723G>T |