Linked Data
dbSNP Id:
rs782818660
ExAC:
9:136131245 G / A
gnomAD v2:
9-136131245-G-A
gnomAD v4:
9-133255858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255858G>A , CM000671.2:g.133255858G>A | GRCh38 |
| NC_000009.11:g.136131245G>A , CM000671.1:g.136131245G>A | GRCh37 |
| NC_000009.10:g.135121066G>A | NCBI36 |
| NG_006669.1:g.21810C>T | |
| NG_006669.2:g.24358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.902C>T | ||
| ENST00000647353.1:n.54-4706C>T | ||
| ENST00000679909.1:c.28+19304C>T | ENSP00000506089.1:n.28+19304C>T | |
| ENST00000453660.3:n.884C>T | ||
| ENST00000538324.2:c.870C>T | ENSP00000483018.1:p.Asp290= | |
| ENST00000611156.4:c.870C>T | ENSP00000483265.1:p.Asp290= | |
| NM_020469.2:c.873C>T | NP_065202.2:p.Asp291= | |
| NM_020469.3:c.873C>T | NP_065202.2:p.Asp291= |