Linked Data
ClinVar Variation Id:
1679547
ClinVar RCV Id:
RCV002227426
dbSNP Id:
rs2128819357
gnomAD v4:
7-44145671-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145671G>T , CM000669.2:g.44145671G>T | GRCh38 |
| NC_000007.13:g.44185270G>T , CM000669.1:g.44185270G>T | GRCh37 |
| NC_000007.12:g.44151795G>T | NCBI36 |
| NG_008847.1:g.48753C>A | |
| NG_008847.2:g.57500C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1077C>A | ENSP00000379142.4:n.*1077C>A | |
| ENST00000616242.5:c.*199C>A | ENSP00000482149.2:n.*199C>A | |
| ENST00000683378.1:n.305C>A | ||
| ENST00000336642.9:c.113C>A | ENSP00000338009.5:p.Ser38Ter | |
| ENST00000345378.7:c.1082C>A | ENSP00000223366.2:p.Ser361Ter | |
| ENST00000403799.8:c.1079C>A MANE Select | ENSP00000384247.3:p.Ser360Ter | |
| ENST00000671824.1:c.1142C>A | ENSP00000500264.1:p.Ser381Ter | |
| ENST00000672743.1:n.91C>A | ||
| ENST00000673284.1:c.1079C>A | ENSP00000499852.1:p.Ser360Ter | |
| ENST00000336642.8:c.131C>A | ENSP00000338009.4:p.Ser44Ter | |
| ENST00000345378.6:c.1082C>A | ENSP00000223366.2:p.Ser361Ter | |
| ENST00000395796.7:c.1076C>A | ENSP00000379142.3:p.Ser359Ter | |
| ENST00000403799.7:c.1079C>A | ENSP00000384247.3:p.Ser360Ter | |
| ENST00000437084.1:c.1028C>A | ENSP00000402840.1:p.Ser343Ter | |
| ENST00000459642.1:n.459C>A | ||
| ENST00000473353.1:n.377C>A | ||
| ENST00000616242.4:c.1076C>A | ENSP00000482149.1:p.Ser359Ter | |
| NM_000162.3:c.1079C>A | NP_000153.1:p.Ser360Ter | |
| NM_033507.1:c.1082C>A | NP_277042.1:p.Ser361Ter | |
| NM_033508.1:c.1076C>A | NP_277043.1:p.Ser359Ter | |
| NM_000162.4:c.1079C>A | NP_000153.1:p.Ser360Ter | |
| NM_001354800.1:c.1079C>A | NP_001341729.1:p.Ser360Ter | |
| NM_001354801.1:c.68C>A | NP_001341730.1:p.Ser23Ter | |
| NM_001354802.1:c.-62C>A | NP_001341731.1:n.-62C>A | |
| NM_001354803.1:c.113C>A | NP_001341732.1:p.Ser38Ter | |
| NM_033507.2:c.1082C>A | NP_277042.1:p.Ser361Ter | |
| NM_033508.2:c.1076C>A | NP_277043.1:p.Ser359Ter | |
| XM_024446707.1:c.-62C>A | XP_024302475.1:n.-62C>A | |
| NM_000162.5:c.1079C>A MANE Select | NP_000153.1:p.Ser360Ter | |
| NM_033507.3:c.1082C>A | NP_277042.1:p.Ser361Ter | |
| NM_033508.3:c.1076C>A | NP_277043.1:p.Ser359Ter | |
| NM_001354803.2:c.113C>A | NP_001341732.1:p.Ser38Ter |