Linked Data
dbSNP Id:
rs929329417
gnomAD v2:
7-87230208-G-C
gnomAD v3:
7-87600892-G-C
gnomAD v4:
7-87600892-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87600892G>C , CM000669.2:g.87600892G>C | GRCh38 |
| NC_000007.13:g.87230208G>C , CM000669.1:g.87230208G>C | GRCh37 |
| NC_000007.12:g.87068144G>C | NCBI36 |
| NG_011513.1:g.117357C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.-144C>G | ENSP00000265724.3:n.-144C>G | |
| ENST00000265724.7:c.-144C>G | ENSP00000265724.3:n.-144C>G | |
| ENST00000416177.1:c.-77-67C>G | ENSP00000399419.1:n.-77-67C>G | |
| ENST00000476862.1:n.503C>G | ||
| ENST00000543898.5:c.-144C>G | ENSP00000444095.1:n.-144C>G | |
| ENST00000622132.4:c.-144C>G | ENSP00000478255.1:n.-144C>G | |
| NM_000927.4:c.-144C>G | NP_000918.2:n.-144C>G | |
| NM_001348944.1:c.-77-67C>G | NP_001335873.1:n.-77-67C>G | |
| NM_001348945.1:c.134-67C>G | NP_001335874.1:n.134-67C>G | |
| NM_000927.5:c.-144C>G | NP_000918.2:n.-144C>G | |
| NM_001348944.2:c.-77-67C>G | NP_001335873.1:n.-77-67C>G | |
| NM_001348945.2:c.134-67C>G | NP_001335874.1:n.134-67C>G |