Linked Data
ClinVar Variation Id:
2998445
ClinVar RCV Id:
RCV003857108
dbSNP Id:
rs1159240811
gnomAD v2:
12-48238769-G-A
gnomAD v4:
12-47844986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47844986G>A , CM000674.2:g.47844986G>A | GRCh38 |
| NC_000012.11:g.48238769G>A , CM000674.1:g.48238769G>A | GRCh37 |
| NC_000012.10:g.46525036G>A | NCBI36 |
| NG_008731.1:g.65046C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.1044C>T | ENSP00000229022.5:p.Asp348= | |
| ENST00000549336.6:c.1044C>T MANE Select | ENSP00000449573.2:p.Asp348= | |
| ENST00000229022.7:c.1044C>T | ENSP00000229022.3:p.Asp348= | |
| ENST00000395324.6:c.1044C>T | ENSP00000378734.2:p.Asp348= | |
| ENST00000547065.1:c.*1046C>T | ENSP00000449074.1:n.*1046C>T | |
| ENST00000549336.5:c.1044C>T | ENSP00000449573.1:p.Asp348= | |
| ENST00000550325.5:c.1194C>T | ENSP00000447173.1:p.Asp398= | |
| NM_000376.2:c.1044C>T | NP_000367.1:p.Asp348= | |
| NM_001017535.1:c.1044C>T | NP_001017535.1:p.Asp348= | |
| NM_001017536.1:c.1194C>T | NP_001017536.1:p.Asp398= | |
| XM_006719587.2:c.1044C>T | XP_006719650.1:p.Asp348= | |
| XM_011538720.1:c.1044C>T | XP_011537022.1:p.Asp348= | |
| NM_001364085.1:c.1044C>T | NP_001351014.1:p.Asp348= | |
| XM_006719587.3:c.1044C>T | XP_006719650.1:p.Asp348= | |
| XM_011538720.2:c.1044C>T | XP_011537022.1:p.Asp348= | |
| XM_024449178.1:c.1113C>T | XP_024304946.1:p.Asp371= | |
| NM_000376.3:c.1044C>T MANE Select | NP_000367.1:p.Asp348= | |
| NM_001017535.2:c.1044C>T | NP_001017535.1:p.Asp348= | |
| NM_001017536.2:c.1194C>T | NP_001017536.1:p.Asp398= | |
| NM_001364085.2:c.1044C>T | NP_001351014.1:p.Asp348= | |
| NM_001374661.1:c.1044C>T | NP_001361590.1:p.Asp348= | |
| NM_001374662.1:c.1044C>T | NP_001361591.1:p.Asp348= |