Linked Data
dbSNP Id:
rs118203955
ExAC:
6:107531687 G / C
gnomAD v2:
6-107531687-G-C
gnomAD v4:
6-107210483-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107210483G>C , CM000668.2:g.107210483G>C | GRCh38 |
| NC_000006.11:g.107531687G>C , CM000668.1:g.107531687G>C | GRCh37 |
| NC_000006.10:g.107638380G>C | NCBI36 |
| NG_013033.1:g.254093C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369037.9:c.964C>G MANE Select | ENSP00000358033.4:p.Gln322Glu | |
| ENST00000369037.8:c.964C>G | ENSP00000358033.4:p.Gln322Glu | |
| ENST00000449027.1:c.139C>G | ENSP00000392613.1:p.Gln47Glu | |
| NM_020381.3:c.964C>G | NP_065114.3:p.Gln322Glu | |
| XM_011535956.1:c.964C>G | XP_011534258.1:p.Gln322Glu | |
| XM_011535957.1:c.876+1626C>G | XP_011534259.1:n.876+1626C>G | |
| XM_011535958.1:c.829C>G | XP_011534260.1:p.Gln277Glu | |
| XM_011535959.1:c.876+1626C>G | XP_011534261.1:n.876+1626C>G | |
| XM_011535960.1:c.556C>G | XP_011534262.1:p.Gln186Glu | |
| XM_011535961.1:c.703-16629C>G | XP_011534263.1:n.703-16629C>G | |
| XM_011535962.1:c.556C>G | XP_011534264.1:p.Gln186Glu | |
| XM_011535956.3:c.964C>G | XP_011534258.1:p.Gln322Glu | |
| XM_011535957.3:c.876+1626C>G | XP_011534259.1:n.876+1626C>G | |
| XM_011535958.3:c.829C>G | XP_011534260.1:p.Gln277Glu | |
| XM_011535959.3:c.876+1626C>G | XP_011534261.1:n.876+1626C>G | |
| XM_011535960.3:c.556C>G | XP_011534262.1:p.Gln186Glu | |
| XM_011535961.3:c.703-16629C>G | XP_011534263.1:n.703-16629C>G | |
| XM_011535962.2:c.556C>G | XP_011534264.1:p.Gln186Glu | |
| XM_017011082.2:c.964C>G | XP_016866571.1:p.Gln322Glu | |
| NM_020381.4:c.964C>G MANE Select | NP_065114.3:p.Gln322Glu |