Linked Data
ClinVar Variation Id:
137914
ClinVar RCV Id:
RCV000155342
RCV000724541
RCV000664090
RCV001151987
RCV001151986
RCV004528845
RCV002514675
dbSNP Id:
rs146132083
ExAC:
4:6303119 C / T
gnomAD v2:
4-6303119-C-T
gnomAD v3:
4-6301392-C-T
gnomAD v4:
4-6301392-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301392C>T , CM000666.2:g.6301392C>T | GRCh38 |
| NC_000004.11:g.6303119C>T , CM000666.1:g.6303119C>T | GRCh37 |
| NC_000004.10:g.6354020C>T | NCBI36 |
| NG_011700.1:g.36543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1633C>T | ENSP00000507852.1:p.Pro545Ser | |
| ENST00000683395.1:c.1574C>T | ||
| ENST00000684087.1:c.1597C>T | ENSP00000506978.1:p.Pro533Ser | |
| ENST00000506362.2:c.1348C>T | ENSP00000424103.2:p.Pro450Ser | |
| ENST00000673642.1:c.1256C>T | ENSP00000501242.1:p.Ala419Val | |
| ENST00000673991.1:c.1633C>T | ENSP00000501033.1:p.Pro545Ser | |
| ENST00000226760.5:c.1597C>T MANE Select | ENSP00000226760.1:p.Pro533Ser | |
| ENST00000503569.5:c.1597C>T | ENSP00000423337.1:p.Pro533Ser | |
| ENST00000507765.1:n.1782C>T | ||
| NM_001145853.1:c.1597C>T | NP_001139325.1:p.Pro533Ser | |
| NM_006005.3:c.1597C>T MANE Select | NP_005996.2:p.Pro533Ser | |
| XM_017008586.1:c.1606C>T | XP_016864075.1:p.Pro536Ser |