Linked Data
dbSNP Id:
rs781838783
ExAC:
9:136131623 C / A
gnomAD v2:
9-136131623-C-A
gnomAD v3:
9-133256236-C-A
gnomAD v4:
9-133256236-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256236C>A , CM000671.2:g.133256236C>A | GRCh38 |
| NC_000009.11:g.136131623C>A , CM000671.1:g.136131623C>A | GRCh37 |
| NC_000009.10:g.135121444C>A | NCBI36 |
| NG_006669.1:g.21432G>T | |
| NG_006669.2:g.23980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.524G>T | ||
| ENST00000647353.1:n.54-5084G>T | ||
| ENST00000651471.1:n.450G>T | ||
| ENST00000679909.1:c.28+18926G>T | ENSP00000506089.1:n.28+18926G>T | |
| ENST00000453660.3:n.506G>T | ||
| ENST00000538324.2:c.492G>T | ENSP00000483018.1:p.Gly164= | |
| ENST00000611156.4:c.492G>T | ENSP00000483265.1:p.Gly164= | |
| NM_020469.2:c.495G>T | NP_065202.2:p.Gly165= | |
| NM_020469.3:c.495G>T | NP_065202.2:p.Gly165= |