Linked Data
ClinVar Variation Id:
242510
ClinVar RCV Id:
RCV000197221
dbSNP Id:
rs863224859
gnomAD v3:
8-1771266-C-T
gnomAD v4:
8-1771266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1771266C>T , CM000670.2:g.1771266C>T | GRCh38 |
| NC_000008.10:g.1719432C>T , CM000670.1:g.1719432C>T | GRCh37 |
| NC_000008.9:g.1706839C>T | NCBI36 |
| NG_008656.2:g.20489C>T , LRG_691:g.20489C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331222.6:c.212C>T MANE Select | ENSP00000328182.4:p.Ala71Val | |
| ENST00000519254.2:c.212C>T | ENSP00000490016.1:p.Ala71Val | |
| ENST00000520991.3:c.212C>T | ENSP00000487905.2:p.Ala71Val | |
| ENST00000524258.2:c.212C>T | ENSP00000488898.2:p.Ala71Val | |
| ENST00000635751.1:c.212C>T | ENSP00000489694.1:p.Ala71Val | |
| ENST00000635773.1:c.165C>T | ||
| ENST00000635855.1:c.212C>T | ENSP00000489726.1:p.Ala71Val | |
| ENST00000635970.1:c.212C>T | ENSP00000490439.1:p.Ala71Val | |
| ENST00000636175.1:c.12C>T | ||
| ENST00000636934.1:c.212C>T | ENSP00000490218.1:p.Ala71Val | |
| ENST00000637083.1:c.212C>T | ENSP00000490235.1:p.Ala71Val | |
| ENST00000637156.1:c.212C>T | ENSP00000490458.1:p.Ala71Val | |
| ENST00000637594.1:c.212C>T | ENSP00000489999.1:p.Ala71Val | |
| ENST00000331222.4:c.212C>T | ENSP00000328182.4:p.Ala71Val | |
| ENST00000520991.2:c.212C>T | ENSP00000487905.1:p.Ala71Val | |
| ENST00000524258.1:c.212C>T | ENSP00000488898.1:p.Ala71Val | |
| NM_018941.3:c.212C>T , LRG_691t1:c.212C>T | NP_061764.2:p.Ala71Val | |
| XM_005266021.3:c.212C>T | XP_005266078.1:p.Ala71Val | |
| XM_005266022.1:c.212C>T | XP_005266079.1:p.Ala71Val | |
| XM_005266023.1:c.212C>T | XP_005266080.1:p.Ala71Val | |
| XM_011534745.1:c.212C>T | XP_011533047.1:p.Ala71Val | |
| XM_011534746.1:c.212C>T | XP_011533048.1:p.Ala71Val | |
| XM_011534747.1:c.212C>T | XP_011533049.1:p.Ala71Val | |
| XM_005266021.4:c.212C>T | XP_005266078.1:p.Ala71Val | |
| XM_011534746.2:c.212C>T | XP_011533048.1:p.Ala71Val | |
| XM_011534747.2:c.212C>T | XP_011533049.1:p.Ala71Val | |
| NM_018941.4:c.212C>T MANE Select | NP_061764.2:p.Ala71Val |