Linked Data
dbSNP Id:
rs767577357
ExAC:
7:23205520 A / G
gnomAD v2:
7-23205520-A-G
gnomAD v4:
7-23165901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165901A>G , CM000669.2:g.23165901A>G | GRCh38 |
| NC_000007.13:g.23205520A>G , CM000669.1:g.23205520A>G | GRCh37 |
| NC_000007.12:g.23172045A>G | NCBI36 |
| NG_016983.1:g.65168A>G | |
| NG_016983.2:g.65168A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1140A>G MANE Select | ENSP00000343273.4:p.Ala380= | |
| ENST00000339077.9:c.1140A>G | ENSP00000343273.4:p.Ala380= | |
| ENST00000409689.5:c.996A>G | ENSP00000386263.1:p.Ala332= | |
| ENST00000469576.1:n.27A>G | ||
| ENST00000521082.5:c.*1148A>G | ENSP00000430351.1:n.*1148A>G | |
| NM_001031710.2:c.1140A>G | NP_001026880.2:p.Ala380= | |
| NM_018846.4:c.996A>G | NP_061334.4:p.Ala332= | |
| NR_033328.1:n.1564A>G | ||
| XM_006715753.1:c.1179A>G | XP_006715816.1:p.Ala393= | |
| XM_006715754.1:c.1113A>G | XP_006715817.1:p.Ala371= | |
| XM_006715755.1:c.1113A>G | XP_006715818.1:p.Ala371= | |
| XM_006715756.1:c.1035A>G | XP_006715819.1:p.Ala345= | |
| XM_006715753.3:c.1179A>G | XP_006715816.1:p.Ala393= | |
| XM_006715754.3:c.1113A>G | XP_006715817.1:p.Ala371= | |
| XM_006715755.3:c.1113A>G | XP_006715818.1:p.Ala371= | |
| XM_006715756.3:c.1035A>G | XP_006715819.1:p.Ala345= | |
| XM_017012439.2:c.1074A>G | XP_016867928.1:p.Ala358= | |
| NM_001031710.3:c.1140A>G MANE Select | NP_001026880.2:p.Ala380= | |
| NM_018846.5:c.996A>G | NP_061334.4:p.Ala332= | |
| NR_033328.2:n.1513A>G |