Linked Data
ClinVar Variation Id:
215389
ClinVar RCV Id:
RCV000488089
RCV000603890
RCV001153150
RCV001153151
RCV001174421
RCV000765780
RCV001375054
RCV001640297
RCV004530181
RCV004020439
dbSNP Id:
rs113446173
ExAC:
4:6302893 G / T
gnomAD v2:
4-6302893-G-T
gnomAD v3:
4-6301166-G-T
gnomAD v4:
4-6301166-G-T
PubMed:
PMID:15605410
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301166G>T , CM000666.2:g.6301166G>T | GRCh38 |
| NC_000004.11:g.6302893G>T , CM000666.1:g.6302893G>T | GRCh37 |
| NC_000004.10:g.6353794G>T | NCBI36 |
| NG_011700.1:g.36317G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1407G>T | ENSP00000507852.1:p.Arg469Ser | |
| ENST00000683395.1:c.1348G>T | ||
| ENST00000684087.1:c.1371G>T | ENSP00000506978.1:p.Arg457Ser | |
| ENST00000506362.2:c.1122G>T | ENSP00000424103.2:p.Arg374Ser | |
| ENST00000673642.1:c.1030G>T | ENSP00000501242.1:p.Gly344Cys | |
| ENST00000673991.1:c.1407G>T | ENSP00000501033.1:p.Arg469Ser | |
| ENST00000226760.5:c.1371G>T MANE Select | ENSP00000226760.1:p.Arg457Ser | |
| ENST00000503569.5:c.1371G>T | ENSP00000423337.1:p.Arg457Ser | |
| ENST00000507765.1:n.1556G>T | ||
| NM_001145853.1:c.1371G>T | NP_001139325.1:p.Arg457Ser | |
| NM_006005.3:c.1371G>T MANE Select | NP_005996.2:p.Arg457Ser | |
| XM_017008586.1:c.1380G>T | XP_016864075.1:p.Arg460Ser |