Linked Data
ClinVar Variation Id:
1953393
ClinVar RCV Id:
RCV002681788
dbSNP Id:
rs1261570205
gnomAD v2:
3-190126118-T-C
gnomAD v3:
3-190408329-T-C
gnomAD v4:
3-190408329-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408329T>C , CM000665.2:g.190408329T>C | GRCh38 |
| NC_000003.11:g.190126118T>C , CM000665.1:g.190126118T>C | GRCh37 |
| NC_000003.10:g.191608812T>C | NCBI36 |
| NG_008149.1:g.25278T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.398T>C MANE Select | ENSP00000264734.3:p.Ile133Thr | |
| ENST00000456423.2:c.115-1574T>C | ENSP00000414136.2:n.115-1574T>C | |
| ENST00000264734.2:c.608T>C | ENSP00000264734.2:p.Ile203Thr | |
| ENST00000456423.1:c.325-1574T>C | ENSP00000414136.1:n.325-1574T>C | |
| NM_006580.3:c.608T>C | NP_006571.1:p.Ile203Thr | |
| NM_001378492.1:c.398T>C | NP_001365421.1:p.Ile133Thr | |
| NM_001378493.1:c.398T>C | NP_001365422.1:p.Ile133Thr | |
| NM_006580.4:c.398T>C MANE Select | NP_006571.2:p.Ile133Thr |