Linked Data
dbSNP Id:
rs1564303232
gnomAD v3:
9-133255360-G-A
gnomAD v4:
9-133255360-G-A
MyVariant Identifiers:
chr9:g.136130747G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255360G>A , CM000671.2:g.133255360G>A | GRCh38 |
| NC_000009.11:g.136130747G>A , CM000671.1:g.136130747G>A | GRCh37 |
| NC_000009.10:g.135120568G>A | NCBI36 |
| NG_006669.1:g.22308C>T | |
| NG_006669.2:g.24856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1400C>T | ||
| ENST00000647353.1:n.54-4208C>T | ||
| ENST00000679909.1:c.28+19802C>T | ENSP00000506089.1:n.28+19802C>T | |
| ENST00000453660.3:n.1382C>T | ||
| ENST00000611156.4:c.*306C>T | ENSP00000483265.1:n.*306C>T | |
| NM_020469.2:c.*306C>T | NP_065202.2:n.*306C>T | |
| NM_020469.3:c.*306C>T | NP_065202.2:n.*306C>T |