Linked Data
dbSNP Id:
rs3762397
gnomAD v2:
1-200090219-C-T
gnomAD v3:
1-200121091-C-T
gnomAD v4:
1-200121091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200121091C>T , CM000663.2:g.200121091C>T | GRCh38 |
| NC_000001.10:g.200090219C>T , CM000663.1:g.200090219C>T | GRCh37 |
| NC_000001.9:g.198356842C>T | NCBI36 |
| NG_050913.1:g.98490C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367362.8:c.1378+136C>T MANE Select | ENSP00000356331.3:n.1378+136C>T | |
| ENST00000236914.7:c.1240+136C>T | ENSP00000236914.3:n.1240+136C>T | |
| ENST00000367362.7:c.1378+136C>T | ENSP00000356331.3:n.1378+136C>T | |
| ENST00000544748.5:c.1162+136C>T | ENSP00000439116.1:n.1162+136C>T | |
| NM_001276464.1:c.1162+136C>T | NP_001263393.1:n.1162+136C>T | |
| NM_003822.4:c.1240+136C>T | NP_003813.1:n.1240+136C>T | |
| NM_205860.2:c.1378+136C>T | NP_995582.1:n.1378+136C>T | |
| XM_005245062.2:c.1162+136C>T | XP_005245119.1:n.1162+136C>T | |
| XM_011509380.1:c.1258+136C>T | XP_011507682.1:n.1258+136C>T | |
| XM_011509381.1:c.1258+136C>T | XP_011507683.1:n.1258+136C>T | |
| XM_011509382.1:c.1162+136C>T | XP_011507684.1:n.1162+136C>T | |
| XM_011509383.1:c.1162+136C>T | XP_011507685.1:n.1162+136C>T | |
| XM_011509384.1:c.1258+136C>T | XP_011507686.1:n.1258+136C>T | |
| XM_005245062.3:c.1162+136C>T | XP_005245119.1:n.1162+136C>T | |
| XM_011509381.3:c.1258+136C>T | XP_011507683.1:n.1258+136C>T | |
| XM_011509384.2:c.1258+136C>T | XP_011507686.1:n.1258+136C>T | |
| XM_017000904.1:c.1258+136C>T | XP_016856393.1:n.1258+136C>T | |
| NM_205860.3:c.1378+136C>T MANE Select | NP_995582.1:n.1378+136C>T | |
| NM_003822.5:c.1240+136C>T | NP_003813.1:n.1240+136C>T | |
| NM_001276464.2:c.1162+136C>T | NP_001263393.1:n.1162+136C>T |