Linked Data
ClinVar Variation Id:
198155
dbSNP Id:
rs773151547
ExAC:
1:2237581 C / T
gnomAD v2:
1-2237581-C-T
gnomAD v3:
1-2306142-C-T
gnomAD v4:
1-2306142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306142C>T , CM000663.2:g.2306142C>T | GRCh38 |
| NC_000001.10:g.2237581C>T , CM000663.1:g.2237581C>T | GRCh37 |
| NC_000001.9:g.2227441C>T | NCBI36 |
| NG_013084.1:g.82448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378536.5:c.1890C>T MANE Select | ENSP00000367797.4:p.Ala630= | |
| ENST00000378536.4:c.1890C>T | ENSP00000367797.4:p.Ala630= | |
| NM_003036.3:c.1890C>T | NP_003027.1:p.Ala630= | |
| XM_005244775.2:c.1896C>T | XP_005244832.1:p.Ala632= | |
| XM_005244776.3:c.1026C>T | XP_005244833.1:p.Ala342= | |
| XM_005244775.3:c.1896C>T | XP_005244832.1:p.Ala632= | |
| XM_005244776.4:c.1026C>T | XP_005244833.1:p.Ala342= | |
| XM_017002128.1:c.1404C>T | XP_016857617.1:p.Ala468= | |
| NM_003036.4:c.1890C>T MANE Select | NP_003027.1:p.Ala630= |