Linked Data
ClinVar Variation Id:
365348
dbSNP Id:
rs200382898
ExAC:
9:135153624 G / A
gnomAD v2:
9-135153624-G-A
gnomAD v3:
9-132278237-G-A
gnomAD v4:
9-132278237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132278237G>A , CM000671.2:g.132278237G>A | GRCh38 |
| NC_000009.11:g.135153624G>A , CM000671.1:g.135153624G>A | GRCh37 |
| NC_000009.10:g.134143445G>A | NCBI36 |
| NG_007946.1:g.81749C>T , LRG_268:g.81749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.6675C>T MANE Select | ENSP00000224140.5:p.Tyr2225= | |
| ENST00000224140.5:c.6675C>T | ENSP00000224140.5:p.Tyr2225= | |
| ENST00000436441.5:c.1401C>T | ENSP00000409143.1:p.Tyr467= | |
| NM_015046.5:c.6675C>T , LRG_268t1:c.6675C>T | NP_055861.3:p.Tyr2225= | |
| XM_005272171.1:c.6675C>T | XP_005272228.1:p.Tyr2225= | |
| XM_005272172.1:c.6675C>T | XP_005272229.1:p.Tyr2225= | |
| XM_005272173.1:c.6675C>T | XP_005272230.1:p.Tyr2225= | |
| XM_011518404.1:c.6675C>T | XP_011516706.1:p.Tyr2225= | |
| XM_011518405.1:c.6675C>T | XP_011516707.1:p.Tyr2225= | |
| XM_011518406.1:c.6675C>T | XP_011516708.1:p.Tyr2225= | |
| XM_011518407.1:c.6675C>T | XP_011516709.1:p.Tyr2225= | |
| XR_929739.1:n.6591C>T | ||
| NM_001351527.1:c.6675C>T | NP_001338456.1:p.Tyr2225= | |
| NM_001351528.1:c.6675C>T | NP_001338457.1:p.Tyr2225= | |
| NM_015046.6:c.6675C>T | NP_055861.3:p.Tyr2225= | |
| XM_005272172.3:c.6675C>T | XP_005272229.1:p.Tyr2225= | |
| XM_005272173.3:c.6675C>T | XP_005272230.1:p.Tyr2225= | |
| XM_011518404.3:c.6675C>T | XP_011516706.1:p.Tyr2225= | |
| XM_011518405.3:c.6675C>T | XP_011516707.1:p.Tyr2225= | |
| XM_011518406.2:c.6675C>T | XP_011516708.1:p.Tyr2225= | |
| XM_017014496.1:c.1128C>T | XP_016869985.1:p.Tyr376= | |
| XR_001746251.1:n.6230C>T | ||
| XR_929739.2:n.6591C>T | ||
| NM_015046.7:c.6675C>T MANE Select | NP_055861.3:p.Tyr2225= | |
| NM_001351528.2:c.6675C>T | NP_001338457.1:p.Tyr2225= | |
| NM_001351527.2:c.6675C>T | NP_001338456.1:p.Tyr2225= |