Linked Data
dbSNP Id:
rs115522963
gnomAD v2:
2-69033583-C-T
gnomAD v3:
2-68806451-C-T
gnomAD v4:
2-68806451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68806451C>T , CM000664.2:g.68806451C>T | GRCh38 |
| NC_000002.11:g.69033583C>T , CM000664.1:g.69033583C>T | GRCh37 |
| NC_000002.10:g.68887087C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409202.8:c.467-822C>T MANE Select | ENSP00000386911.3:n.467-822C>T | |
| ENST00000409030.7:c.446-825C>T | ENSP00000386863.3:n.446-825C>T | |
| ENST00000409202.7:c.467-822C>T | ENSP00000386911.3:n.467-822C>T | |
| ENST00000409220.5:c.446-822C>T | ENSP00000386241.1:n.446-822C>T | |
| ENST00000456116.6:n.685-822C>T | ||
| ENST00000463483.5:c.389-822C>T | ENSP00000417283.1:n.389-822C>T | |
| ENST00000467265.5:c.350-825C>T | ENSP00000420583.1:n.350-825C>T | |
| ENST00000473986.1:c.*292-822C>T | ENSP00000417425.1:n.*292-822C>T | |
| ENST00000485700.5:n.634-822C>T | ||
| ENST00000488795.1:c.262-822C>T | ENSP00000420427.1:n.262-822C>T | |
| ENST00000497079.5:c.446-822C>T | ENSP00000417139.1:n.446-822C>T | |
| NM_001007231.2:c.467-822C>T | NP_001007232.2:n.467-822C>T | |
| NM_001166276.1:c.446-822C>T | NP_001159748.1:n.446-822C>T | |
| NM_001166277.1:c.350-825C>T | NP_001159749.1:n.350-825C>T | |
| NM_014882.2:c.446-825C>T | NP_055697.1:n.446-825C>T | |
| XM_005264675.1:c.467-825C>T | XP_005264732.1:n.467-825C>T | |
| XM_005264676.1:c.350-822C>T | XP_005264733.1:n.350-822C>T | |
| XM_011533206.1:c.389-822C>T | XP_011531508.1:n.389-822C>T | |
| XM_011533207.1:c.389-822C>T | XP_011531509.1:n.389-822C>T | |
| XM_011533208.1:c.389-822C>T | XP_011531510.1:n.389-822C>T | |
| XM_011533209.1:c.113-822C>T | XP_011531511.1:n.113-822C>T | |
| NM_001364819.1:c.467-825C>T | NP_001351748.1:n.467-825C>T | |
| NM_001364820.1:c.350-822C>T | NP_001351749.1:n.350-822C>T | |
| NM_001364821.1:c.389-822C>T | NP_001351750.1:n.389-822C>T | |
| XM_011533207.3:c.389-822C>T | XP_011531509.1:n.389-822C>T | |
| XM_011533208.2:c.389-822C>T | XP_011531510.1:n.389-822C>T | |
| XM_011533209.2:c.113-822C>T | XP_011531511.1:n.113-822C>T | |
| XM_017005423.2:c.479-822C>T | XP_016860912.1:n.479-822C>T | |
| XM_017005424.1:c.479-825C>T | XP_016860913.1:n.479-825C>T | |
| XM_017005425.1:c.362-822C>T | XP_016860914.1:n.362-822C>T | |
| XM_017005426.1:c.-845C>T | XP_016860915.1:n.-845C>T | |
| XM_017005427.1:c.-842C>T | XP_016860916.1:n.-842C>T | |
| XM_017005428.1:c.479-822C>T | XP_016860917.1:n.479-822C>T | |
| NM_001007231.3:c.467-822C>T MANE Select | NP_001007232.2:n.467-822C>T | |
| NM_001166276.2:c.446-822C>T | NP_001159748.1:n.446-822C>T | |
| NM_001166277.2:c.350-825C>T | NP_001159749.1:n.350-825C>T | |
| NM_014882.3:c.446-825C>T | NP_055697.1:n.446-825C>T |