Linked Data
dbSNP Id:
rs781951685
ExAC:
9:136131656 G / A
gnomAD v2:
9-136131656-G-A
gnomAD v3:
9-133256269-G-A
gnomAD v4:
9-133256269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256269G>A , CM000671.2:g.133256269G>A | GRCh38 |
| NC_000009.11:g.136131656G>A , CM000671.1:g.136131656G>A | GRCh37 |
| NC_000009.10:g.135121477G>A | NCBI36 |
| NG_006669.1:g.21399C>T | |
| NG_006669.2:g.23947C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.491C>T | ||
| ENST00000647353.1:n.54-5117C>T | ||
| ENST00000651471.1:n.417C>T | ||
| ENST00000679909.1:c.28+18893C>T | ENSP00000506089.1:n.28+18893C>T | |
| ENST00000453660.3:n.473C>T | ||
| ENST00000538324.2:c.459C>T | ENSP00000483018.1:p.Asp153= | |
| ENST00000611156.4:c.459C>T | ENSP00000483265.1:p.Asp153= | |
| NM_020469.2:c.462C>T | NP_065202.2:p.Asp154= | |
| NM_020469.3:c.462C>T | NP_065202.2:p.Asp154= |