Linked Data
ClinVar Variation Id:
2181004
ClinVar RCV Id:
RCV002603106
dbSNP Id:
rs750507234
gnomAD v2:
16-3843415-C-T
gnomAD v3:
16-3793414-C-T
gnomAD v4:
16-3793414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3793414C>T , CM000678.2:g.3793414C>T | GRCh38 |
| NC_000016.9:g.3843415C>T , CM000678.1:g.3843415C>T | GRCh37 |
| NC_000016.8:g.3783416C>T | NCBI36 |
| NG_009873.1:g.91707G>A | |
| NG_009873.2:g.92300G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.1188G>A MANE Select | ENSP00000262367.5:p.Thr396= | |
| ENST00000262367.9:c.1188G>A | ENSP00000262367.5:p.Thr396= | |
| ENST00000382070.7:c.1188G>A | ENSP00000371502.3:p.Thr396= | |
| NM_001079846.1:c.1188G>A | NP_001073315.1:p.Thr396= | |
| NM_004380.2:c.1188G>A | NP_004371.2:p.Thr396= | |
| XM_005255124.3:c.1188G>A | XP_005255181.1:p.Thr396= | |
| XM_005255125.3:c.1188G>A | XP_005255182.1:p.Thr396= | |
| XM_006720848.2:c.1188G>A | XP_006720911.1:p.Thr396= | |
| XM_011522380.1:c.1134G>A | XP_011520682.1:p.Thr378= | |
| XM_011522381.1:c.435G>A | XP_011520683.1:p.Thr145= | |
| XM_011522382.1:c.1188G>A | XP_011520684.1:p.Thr396= | |
| XM_005255124.4:c.1188G>A | XP_005255181.1:p.Thr396= | |
| XM_005255125.4:c.1188G>A | XP_005255182.1:p.Thr396= | |
| XM_006720848.3:c.1188G>A | XP_006720911.1:p.Thr396= | |
| XM_011522381.2:c.435G>A | XP_011520683.1:p.Thr145= | |
| XM_011522382.3:c.1188G>A | XP_011520684.1:p.Thr396= | |
| XM_017022944.1:c.1188G>A | XP_016878433.1:p.Thr396= | |
| NM_004380.3:c.1188G>A MANE Select | NP_004371.2:p.Thr396= |