Linked Data
ClinVar Variation Id:
1553179
ClinVar RCV Id:
RCV002187416
dbSNP Id:
rs142692011
gnomAD v2:
3-128780831-G-T
gnomAD v4:
3-129061988-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061988G>T , CM000665.2:g.129061988G>T | GRCh38 |
| NC_000003.11:g.128780831G>T , CM000665.1:g.128780831G>T | GRCh37 |
| NC_000003.10:g.130263521G>T | NCBI36 |
| NG_008715.1:g.6187G>T , LRG_477:g.6187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.249G>T MANE Select | ENSP00000303942.4:p.Thr83= | |
| ENST00000307395.4:c.249G>T | ENSP00000303942.4:p.Thr83= | |
| NM_000174.4:c.249G>T , LRG_477t1:c.249G>T | NP_000165.1:p.Thr83= | |
| XM_005247374.3:c.249G>T | XP_005247431.1:p.Thr83= | |
| XM_011512701.1:c.249G>T | XP_011511003.1:p.Thr83= | |
| XM_011512702.1:c.249G>T | XP_011511004.1:p.Thr83= | |
| NM_000174.5:c.249G>T MANE Select | NP_000165.1:p.Thr83= |