Linked Data
ClinVar Variation Id:
14443
ClinVar RCV Id:
RCV000015527
RCV000015526
RCV000058156
RCV000204621
RCV000589886
RCV000620709
RCV001841247
dbSNP Id:
rs77331749
gnomAD v2:
7-150644921-G-A
gnomAD v3:
7-150947833-G-A
gnomAD v4:
7-150947833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947833G>A , CM000669.2:g.150947833G>A | GRCh38 |
| NC_000007.13:g.150644921G>A , CM000669.1:g.150644921G>A | GRCh37 |
| NC_000007.12:g.150275854G>A | NCBI36 |
| NG_008916.1:g.35094C>T , LRG_288:g.35094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3571C>T | ||
| ENST00000262186.10:c.2738C>T MANE Select | ENSP00000262186.5:p.Ala913Val | |
| ENST00000330883.9:c.1718C>T | ENSP00000328531.4:p.Ala573Val | |
| ENST00000262186.9:c.2738C>T | ENSP00000262186.5:p.Ala913Val | |
| ENST00000330883.8:c.1718C>T | ENSP00000328531.4:p.Ala573Val | |
| NM_000238.3:c.2738C>T , LRG_288t1:c.2738C>T | NP_000229.1:p.Ala913Val | |
| NM_172057.2:c.1718C>T , LRG_288t3:c.1718C>T | NP_742054.1:p.Ala573Val | |
| XM_011516185.1:c.2438C>T | XP_011514487.1:p.Ala813Val | |
| XM_011516186.1:c.2693-142C>T | XP_011514488.1:n.2693-142C>T | |
| XM_011516185.2:c.2438C>T | XP_011514487.1:p.Ala813Val | |
| XM_011516186.3:c.2693-142C>T | XP_011514488.1:n.2693-142C>T | |
| XM_017012195.1:c.2588C>T | XP_016867684.1:p.Ala863Val | |
| XM_017012196.1:c.2561C>T | XP_016867685.1:p.Ala854Val | |
| NM_000238.4:c.2738C>T MANE Select | NP_000229.1:p.Ala913Val | |
| NM_172057.3:c.1718C>T | NP_742054.1:p.Ala573Val |