Linked Data
dbSNP Id:
rs781957283
ExAC:
7:75399008 G / A
gnomAD v2:
7-75399008-G-A
gnomAD v3:
7-75769690-G-A
gnomAD v4:
7-75769690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75769690G>A , CM000669.2:g.75769690G>A | GRCh38 |
| NC_000007.13:g.75399008G>A , CM000669.1:g.75399008G>A | GRCh37 |
| NC_000007.12:g.75236944G>A | NCBI36 |
| NG_015989.1:g.25057C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005180.9:c.*3C>T MANE Select | ENSP00000005180.4:n.*3C>T | |
| ENST00000005180.8:c.*3C>T | ENSP00000005180.4:n.*3C>T | |
| ENST00000394905.2:c.*3C>T | ENSP00000378365.2:n.*3C>T | |
| NM_006072.4:c.*3C>T | NP_006063.1:n.*3C>T | |
| XM_017011671.1:c.*3C>T | XP_016867160.1:n.*3C>T | |
| XM_017011672.1:c.*3C>T | XP_016867161.1:n.*3C>T | |
| NM_001371936.1:c.*3C>T | NP_001358865.1:n.*3C>T | |
| NM_001371938.1:c.*3C>T MANE Select | NP_001358867.1:n.*3C>T |