Linked Data
ClinVar Variation Id:
29755
ClinVar RCV Id:
RCV000022618
dbSNP Id:
rs1061235
gnomAD v2:
6-29913298-A-T
gnomAD v3:
6-29945521-A-T
gnomAD v4:
6-29945521-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945521A>T , CM000668.2:g.29945521A>T | GRCh38 |
| NC_000006.11:g.29913298A>T , CM000668.1:g.29913298A>T | GRCh37 |
| NC_000006.10:g.30021277A>T | NCBI36 |
| NG_029217.2:g.8057A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638375.2:c.1047A>T | ENSP00000492789.2:n.1047A>T | |
| ENST00000706892.1:n.2873A>T | ||
| ENST00000706893.1:c.*148A>T | ENSP00000516609.1:n.*148A>T | |
| ENST00000706894.1:c.*148A>T | ENSP00000516610.1:n.*148A>T | |
| ENST00000706895.1:n.2153A>T | ||
| ENST00000706896.1:n.2460A>T | ||
| ENST00000706897.1:n.1882A>T | ||
| ENST00000706898.1:c.*66A>T | ENSP00000516611.1:n.*66A>T | |
| ENST00000706899.1:n.2018A>T | ||
| ENST00000706900.1:c.*66A>T | ENSP00000516617.1:n.*66A>T | |
| ENST00000706901.1:c.*66A>T | ENSP00000516612.1:n.*66A>T | |
| ENST00000706902.1:c.1093+240A>T | ENSP00000516613.1:n.1093+240A>T | |
| ENST00000706903.1:c.*66A>T | ENSP00000516614.1:n.*66A>T | |
| ENST00000706904.1:c.1093+240A>T | ENSP00000516615.1:n.1093+240A>T | |
| ENST00000706905.1:c.*66A>T | ENSP00000516616.1:n.*66A>T | |
| ENST00000376809.10:c.*66A>T MANE Select | ENSP00000366005.5:n.*66A>T | |
| ENST00000376802.2:c.*66A>T | ENSP00000365998.2:n.*66A>T | |
| ENST00000376806.9:c.*66A>T | ENSP00000366002.5:n.*66A>T | |
| ENST00000376809.9:c.*66A>T | ENSP00000366005.5:n.*66A>T | |
| ENST00000396634.5:c.*66A>T | ENSP00000379873.1:n.*66A>T | |
| ENST00000495183.5:n.1403A>T | ||
| ENST00000496081.5:n.1423A>T | ||
| NM_002116.7:c.*66A>T | NP_002107.3:n.*66A>T | |
| NM_002116.8:c.*66A>T MANE Select | NP_002107.3:n.*66A>T |