Linked Data
dbSNP Id:
rs2118942362
gnomAD v4:
9-133256095-C-T
MyVariant Identifiers:
chr9:g.136131482C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256095C>T , CM000671.2:g.133256095C>T | GRCh38 |
| NC_000009.11:g.136131482C>T , CM000671.1:g.136131482C>T | GRCh37 |
| NC_000009.10:g.135121303C>T | NCBI36 |
| NG_006669.1:g.21573G>A | |
| NG_006669.2:g.24121G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.665G>A | ||
| ENST00000647353.1:n.54-4943G>A | ||
| ENST00000679909.1:c.28+19067G>A | ENSP00000506089.1:n.28+19067G>A | |
| ENST00000453660.3:n.647G>A | ||
| ENST00000538324.2:c.633G>A | ENSP00000483018.1:p.Val211= | |
| ENST00000611156.4:c.633G>A | ENSP00000483265.1:p.Val211= | |
| NM_020469.2:c.636G>A | NP_065202.2:p.Val212= | |
| NM_020469.3:c.636G>A | NP_065202.2:p.Val212= |