Linked Data
dbSNP Id:
rs1421141358
gnomAD v2:
20-3649344-G-A
gnomAD v3:
20-3668697-G-A
gnomAD v4:
20-3668697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3668697G>A , CM000682.2:g.3668697G>A | GRCh38 |
| NC_000020.10:g.3649344G>A , CM000682.1:g.3649344G>A | GRCh37 |
| NC_000020.9:g.3597344G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.*266C>T MANE Select | ENSP00000348912.3:n.*266C>T | |
| ENST00000350009.6:c.*266C>T | ENSP00000322550.5:n.*266C>T | |
| ENST00000356518.6:c.*266C>T | ENSP00000348912.2:n.*266C>T | |
| ENST00000379861.8:c.*266C>T | ENSP00000369190.4:n.*266C>T | |
| ENST00000466620.5:n.2269C>T | ||
| ENST00000483362.1:n.1631C>T | ||
| ENST00000617732.1:c.*1392C>T | ENSP00000483343.1:n.*1392C>T | |
| ENST00000619289.4:c.*266C>T | ENSP00000484600.1:n.*266C>T | |
| NM_001282447.1:c.*266C>T | NP_001269376.1:n.*266C>T | |
| NM_025220.3:c.*266C>T | NP_079496.1:n.*266C>T | |
| NM_153202.2:c.*266C>T | NP_694882.1:n.*266C>T | |
| XM_005260843.1:c.*266C>T | XP_005260900.1:n.*266C>T | |
| XM_006723639.1:c.*266C>T | XP_006723702.1:n.*266C>T | |
| XM_006723640.1:c.*266C>T | XP_006723703.1:n.*266C>T | |
| XM_011529366.1:c.*266C>T | XP_011527668.1:n.*266C>T | |
| XM_011529367.1:c.*266C>T | XP_011527669.1:n.*266C>T | |
| XM_011529368.1:c.*266C>T | XP_011527670.1:n.*266C>T | |
| XM_011529373.1:c.*266C>T | XP_011527675.1:n.*266C>T | |
| XR_937153.1:n.2729C>T | ||
| XR_937154.1:n.2729C>T | ||
| XR_937155.1:n.2650C>T | ||
| XR_937157.1:n.2652C>T | ||
| NM_001282447.2:c.*266C>T | NP_001269376.1:n.*266C>T | |
| NM_025220.4:c.*266C>T | NP_079496.1:n.*266C>T | |
| NM_153202.3:c.*266C>T | NP_694882.1:n.*266C>T | |
| XM_011529373.2:c.*266C>T | XP_011527675.1:n.*266C>T | |
| XR_001754405.1:n.2816C>T | ||
| XR_002958534.1:n.2925C>T | ||
| NM_001282447.3:c.*266C>T | NP_001269376.1:n.*266C>T | |
| NM_025220.5:c.*266C>T MANE Select | NP_079496.1:n.*266C>T | |
| NM_153202.4:c.*266C>T | NP_694882.1:n.*266C>T |