Linked Data
ClinVar Variation Id:
1220858
ClinVar RCV Id:
RCV001595420
dbSNP Id:
rs1158867
gnomAD v2:
2-128177377-C-T
gnomAD v3:
2-127419801-C-T
gnomAD v4:
2-127419801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127419801C>T , CM000664.2:g.127419801C>T | GRCh38 |
| NC_000002.11:g.128177377C>T , CM000664.1:g.128177377C>T | GRCh37 |
| NC_000002.10:g.127893847C>T | NCBI36 |
| NG_016323.1:g.6382C>T , LRG_599:g.6382C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.-21-121C>T MANE Select | ENSP00000234071.4:n.-21-121C>T | |
| ENST00000234071.7:c.-21-121C>T | ENSP00000234071.3:n.-21-121C>T | |
| ENST00000419985.5:c.-17-125C>T | ENSP00000392606.1:n.-17-125C>T | |
| ENST00000427769.5:c.-142C>T | ENSP00000406295.1:n.-142C>T | |
| ENST00000429925.5:c.-137-5C>T | ENSP00000412697.1:n.-137-5C>T | |
| ENST00000431364.1:c.-142C>T | ENSP00000391220.1:n.-142C>T | |
| ENST00000442644.5:c.-21-121C>T | ENSP00000411241.1:n.-21-121C>T | |
| ENST00000474030.5:n.67-125C>T | ||
| NM_000312.3:c.-21-121C>T , LRG_599t1:c.-21-121C>T | NP_000303.1:n.-21-121C>T | |
| XM_005263715.3:c.47-5C>T | XP_005263772.1:n.47-5C>T | |
| XM_005263716.3:c.47-125C>T | XP_005263773.1:n.47-125C>T | |
| XM_005263717.3:c.47-125C>T | XP_005263774.1:n.47-125C>T | |
| XM_005263717.4:c.47-125C>T | XP_005263774.1:n.47-125C>T | |
| XM_017004505.1:c.258-121C>T | XP_016859994.1:n.258-121C>T | |
| XM_024453002.1:c.258-121C>T | XP_024308770.1:n.258-121C>T | |
| XM_024453003.1:c.47-5C>T | XP_024308771.1:n.47-5C>T | |
| XM_024453004.1:c.47-5C>T | XP_024308772.1:n.47-5C>T | |
| XM_024453005.1:c.47-125C>T | XP_024308773.1:n.47-125C>T | |
| XM_024453006.1:c.-21-121C>T | XP_024308774.1:n.-21-121C>T | |
| NM_000312.4:c.-21-121C>T MANE Select | NP_000303.1:n.-21-121C>T | |
| NM_001375602.1:c.47-5C>T | NP_001362531.1:n.47-5C>T | |
| NM_001375603.1:c.47-125C>T | NP_001362532.1:n.47-125C>T | |
| NM_001375604.1:c.47-125C>T | NP_001362533.1:n.47-125C>T | |
| NM_001375605.1:c.-21-121C>T | NP_001362534.1:n.-21-121C>T | |
| NM_001375606.1:c.47-125C>T | NP_001362535.1:n.47-125C>T | |
| NM_001375607.1:c.47-69C>T | NP_001362536.1:n.47-69C>T | |
| NM_001375608.1:c.-21-121C>T | NP_001362537.1:n.-21-121C>T | |
| NM_001375609.1:c.46+1309C>T | NP_001362538.1:n.46+1309C>T | |
| NM_001375610.1:c.-21-121C>T | NP_001362539.1:n.-21-121C>T | |
| NM_001375611.1:c.-17-125C>T | NP_001362540.1:n.-17-125C>T | |
| NM_001375613.1:c.-142C>T | NP_001362542.1:n.-142C>T |