Linked Data
ClinVar Variation Id:
2379374
ClinVar RCV Id:
RCV002693145
dbSNP Id:
rs773628430
ExAC:
1:155260433 A / G
gnomAD v2:
1-155260433-A-G
gnomAD v3:
1-155290642-A-G
gnomAD v4:
1-155290642-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290642A>G , CM000663.2:g.155290642A>G | GRCh38 |
| NC_000001.10:g.155260433A>G , CM000663.1:g.155260433A>G | GRCh37 |
| NC_000001.9:g.153527057A>G | NCBI36 |
| NG_011677.1:g.15793T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1655T>C MANE Select | ENSP00000339933.4:p.Val552Ala | |
| ENST00000342741.4:c.1655T>C | ENSP00000339933.4:p.Val552Ala | |
| ENST00000392414.7:c.1562T>C | ENSP00000376214.3:p.Val521Ala | |
| NM_000298.5:c.1655T>C | NP_000289.1:p.Val552Ala | |
| NM_181871.3:c.1562T>C | NP_870986.1:p.Val521Ala | |
| XM_005245266.3:c.1814T>C | XP_005245323.1:p.Val605Ala | |
| XM_006711386.2:c.1463T>C | XP_006711449.1:p.Val488Ala | |
| XM_011509640.1:c.1463T>C | XP_011507942.1:p.Val488Ala | |
| NM_000298.6:c.1655T>C MANE Select | NP_000289.1:p.Val552Ala | |
| XM_006711386.4:c.1463T>C | XP_006711449.1:p.Val488Ala | |
| XM_011509640.3:c.1463T>C | XP_011507942.1:p.Val488Ala | |
| NM_181871.4:c.1562T>C | NP_870986.1:p.Val521Ala |