Linked Data
dbSNP Id:
rs147733656
ExAC:
7:107350519 G / C
gnomAD v2:
7-107350519-G-C
gnomAD v4:
7-107710074-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710074G>C , CM000669.2:g.107710074G>C | GRCh38 |
| NC_000007.13:g.107350519G>C , CM000669.1:g.107350519G>C | GRCh37 |
| NC_000007.12:g.107137755G>C | NCBI36 |
| NG_008489.1:g.54440G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2110G>C MANE Select | ENSP00000494017.1:p.Glu704Gln | |
| ENST00000644846.1:c.766G>C | ||
| ENST00000265715.7:c.2110G>C | ENSP00000265715.3:p.Glu704Gln | |
| ENST00000492030.2:n.377-81G>C | ||
| NM_000441.1:c.2110G>C | NP_000432.1:p.Glu704Gln | |
| XM_005250425.1:c.2110G>C | XP_005250482.1:p.Glu704Gln | |
| XM_005250425.2:c.2110G>C | XP_005250482.1:p.Glu704Gln | |
| XM_017012318.1:c.2032G>C | XP_016867807.1:p.Glu678Gln | |
| NM_000441.2:c.2110G>C MANE Select | NP_000432.1:p.Glu704Gln |