Linked Data
ClinVar Variation Id:
902703
ClinVar RCV Id:
RCV001149441
dbSNP Id:
rs145472050
ExAC:
3:128780785 C / T
gnomAD v2:
3-128780785-C-T
gnomAD v3:
3-129061942-C-T
gnomAD v4:
3-129061942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061942C>T , CM000665.2:g.129061942C>T | GRCh38 |
| NC_000003.11:g.128780785C>T , CM000665.1:g.128780785C>T | GRCh37 |
| NC_000003.10:g.130263475C>T | NCBI36 |
| NG_008715.1:g.6141C>T , LRG_477:g.6141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.203C>T MANE Select | ENSP00000303942.4:p.Pro68Leu | |
| ENST00000307395.4:c.203C>T | ENSP00000303942.4:p.Pro68Leu | |
| NM_000174.4:c.203C>T , LRG_477t1:c.203C>T | NP_000165.1:p.Pro68Leu | |
| XM_005247374.3:c.203C>T | XP_005247431.1:p.Pro68Leu | |
| XM_011512701.1:c.203C>T | XP_011511003.1:p.Pro68Leu | |
| XM_011512702.1:c.203C>T | XP_011511004.1:p.Pro68Leu | |
| NM_000174.5:c.203C>T MANE Select | NP_000165.1:p.Pro68Leu |