Linked Data
ClinVar Variation Id:
236951
dbSNP Id:
rs878853625
gnomAD v2:
11-2906276-C-T
gnomAD v3:
11-2885046-C-T
gnomAD v4:
11-2885046-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2885046C>T , CM000673.2:g.2885046C>T | GRCh38 |
| NC_000011.9:g.2906276C>T , CM000673.1:g.2906276C>T | GRCh37 |
| NC_000011.8:g.2862852C>T | NCBI36 |
| NG_008022.1:g.5720G>A , LRG_533:g.5720G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+588G>A | ||
| ENST00000380725.2:c.255+156G>A | ENSP00000370101.1:n.255+156G>A | |
| ENST00000414822.8:c.444G>A | ENSP00000413720.3:p.Pro148= | |
| ENST00000430149.3:c.444G>A | ENSP00000411552.2:p.Pro148= | |
| ENST00000440480.8:c.411G>A MANE Select | ENSP00000411257.2:p.Pro137= | |
| ENST00000647251.1:c.255+156G>A | ENSP00000496631.1:n.255+156G>A | |
| ENST00000380725.1:c.255+156G>A | ENSP00000370101.1:n.255+156G>A | |
| ENST00000414822.7:c.444G>A | ENSP00000413720.3:p.Pro148= | |
| ENST00000430149.2:c.444G>A | ENSP00000411552.2:p.Pro148= | |
| ENST00000440480.6:c.411G>A | ENSP00000411257.2:p.Pro137= | |
| NM_000076.2:c.444G>A , LRG_533t1:c.444G>A | NP_000067.1:p.Pro148= | |
| NM_001122630.1:c.411G>A | NP_001116102.1:p.Pro137= | |
| NM_001122631.1:c.411G>A | NP_001116103.1:p.Pro137= | |
| XM_005252732.3:c.255+156G>A | XP_005252789.1:n.255+156G>A | |
| NM_001362474.1:c.444G>A | NP_001349403.1:p.Pro148= | |
| NM_001362475.1:c.255+156G>A | NP_001349404.1:n.255+156G>A | |
| NM_001122630.2:c.411G>A MANE Select | NP_001116102.1:p.Pro137= | |
| NM_001122631.2:c.411G>A | NP_001116103.1:p.Pro137= | |
| NM_001362474.2:c.444G>A | NP_001349403.1:p.Pro148= | |
| NM_001362475.2:c.255+156G>A | NP_001349404.1:n.255+156G>A |