Linked Data
dbSNP Id:
rs763268708
ExAC:
7:5681001 T / C
gnomAD v2:
7-5681001-T-C
gnomAD v4:
7-5641370-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641370T>C , CM000669.2:g.5641370T>C | GRCh38 |
| NC_000007.13:g.5681001T>C , CM000669.1:g.5681001T>C | GRCh37 |
| NC_000007.12:g.5647527T>C | NCBI36 |
| NG_029374.1:g.145361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2166A>G MANE Select | ENSP00000374552.3:p.Glu722= | |
| ENST00000389900.8:c.*1283A>G | ENSP00000374550.4:n.*1283A>G | |
| ENST00000389902.7:c.2166A>G | ENSP00000374552.3:p.Glu722= | |
| ENST00000425013.6:c.1995A>G | ENSP00000404602.2:p.Glu665= | |
| ENST00000469375.1:n.383A>G | ||
| ENST00000484458.2:n.470A>G | ||
| NM_207111.3:c.2166A>G | NP_996994.1:p.Glu722= | |
| NM_207116.2:c.1995A>G | NP_996999.1:p.Glu665= | |
| XM_005249785.2:c.2166A>G | XP_005249842.1:p.Glu722= | |
| XM_006715748.1:c.861A>G | XP_006715811.1:p.Glu287= | |
| XM_011515434.1:c.2166A>G | XP_011513736.1:p.Glu722= | |
| XM_011515436.1:c.861A>G | XP_011513738.1:p.Glu287= | |
| XM_011515436.2:c.861A>G | XP_011513738.1:p.Glu287= | |
| XM_017012363.2:c.1995A>G | XP_016867852.1:p.Glu665= | |
| XM_024446805.1:c.2166A>G | XP_024302573.1:p.Glu722= | |
| XM_024446806.1:c.861A>G | XP_024302574.1:p.Glu287= | |
| XM_024446807.1:c.861A>G | XP_024302575.1:p.Glu287= | |
| NM_001377156.1:c.1995A>G | NP_001364085.1:p.Glu665= | |
| NM_207111.4:c.2166A>G MANE Select | NP_996994.1:p.Glu722= | |
| NM_207116.3:c.1995A>G | NP_996999.1:p.Glu665= |