Linked Data
ClinVar Variation Id:
213701
dbSNP Id:
rs372950890
gnomAD v2:
1-2238200-C-T
gnomAD v3:
1-2306761-C-T
gnomAD v4:
1-2306761-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306761C>T , CM000663.2:g.2306761C>T | GRCh38 |
| NC_000001.10:g.2238200C>T , CM000663.1:g.2238200C>T | GRCh37 |
| NC_000001.9:g.2228060C>T | NCBI36 |
| NG_013084.1:g.83067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378536.5:c.2183C>T MANE Select | ENSP00000367797.4:p.Pro728Leu | |
| ENST00000378536.4:c.2183C>T | ENSP00000367797.4:p.Pro728Leu | |
| NM_003036.3:c.2183C>T | NP_003027.1:p.Pro728Leu | |
| XM_005244775.2:c.2189C>T | XP_005244832.1:p.Pro730Leu | |
| XM_005244776.3:c.1319C>T | XP_005244833.1:p.Pro440Leu | |
| XM_005244775.3:c.2189C>T | XP_005244832.1:p.Pro730Leu | |
| XM_005244776.4:c.1319C>T | XP_005244833.1:p.Pro440Leu | |
| XM_017002128.1:c.1697C>T | XP_016857617.1:p.Pro566Leu | |
| NM_003036.4:c.2183C>T MANE Select | NP_003027.1:p.Pro728Leu |