Linked Data
dbSNP Id:
rs546403797
ExAC:
9:136131758 G / A
gnomAD v2:
9-136131758-G-A
gnomAD v3:
9-133256371-G-A
gnomAD v4:
9-133256371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256371G>A , CM000671.2:g.133256371G>A | GRCh38 |
| NC_000009.11:g.136131758G>A , CM000671.1:g.136131758G>A | GRCh37 |
| NC_000009.10:g.135121579G>A | NCBI36 |
| NG_006669.1:g.21297C>T | |
| NG_006669.2:g.23845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.404-15C>T | ||
| ENST00000647353.1:n.54-5219C>T | ||
| ENST00000651471.1:n.330-15C>T | ||
| ENST00000679909.1:c.28+18791C>T | ENSP00000506089.1:n.28+18791C>T | |
| ENST00000453660.3:n.386-15C>T | ||
| ENST00000538324.2:c.372-15C>T | ENSP00000483018.1:n.372-15C>T | |
| ENST00000611156.4:c.372-15C>T | ENSP00000483265.1:n.372-15C>T | |
| NM_020469.2:c.375-15C>T | NP_065202.2:n.375-15C>T | |
| NM_020469.3:c.375-15C>T | NP_065202.2:n.375-15C>T |