Linked Data
dbSNP Id:
rs1239647466
gnomAD v2:
9-136131530-G-A
gnomAD v3:
9-133256143-G-A
gnomAD v4:
9-133256143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256143G>A , CM000671.2:g.133256143G>A | GRCh38 |
| NC_000009.11:g.136131530G>A , CM000671.1:g.136131530G>A | GRCh37 |
| NC_000009.10:g.135121351G>A | NCBI36 |
| NG_006669.1:g.21525C>T | |
| NG_006669.2:g.24073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.617C>T | ||
| ENST00000647353.1:n.54-4991C>T | ||
| ENST00000651471.1:n.543C>T | ||
| ENST00000679909.1:c.28+19019C>T | ENSP00000506089.1:n.28+19019C>T | |
| ENST00000453660.3:n.599C>T | ||
| ENST00000538324.2:c.585C>T | ENSP00000483018.1:p.Cys195= | |
| ENST00000611156.4:c.585C>T | ENSP00000483265.1:p.Cys195= | |
| NM_020469.2:c.588C>T | NP_065202.2:p.Cys196= | |
| NM_020469.3:c.588C>T | NP_065202.2:p.Cys196= |