Linked Data
ClinVar Variation Id:
1189682
ClinVar RCV Id:
RCV001550129
dbSNP Id:
rs1221281593
gnomAD v2:
4-6293724-T-C
gnomAD v3:
4-6291997-T-C
gnomAD v4:
4-6291997-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291997T>C , CM000666.2:g.6291997T>C | GRCh38 |
| NC_000004.11:g.6293724T>C , CM000666.1:g.6293724T>C | GRCh37 |
| NC_000004.10:g.6344625T>C | NCBI36 |
| NG_011700.1:g.27148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.712T>C | ENSP00000507852.1:p.Leu238= | |
| ENST00000683395.1:c.689T>C | ||
| ENST00000684087.1:c.712T>C | ENSP00000506978.1:p.Ser238Pro | |
| ENST00000506362.2:c.463T>C | ENSP00000424103.2:p.Ser155Pro | |
| ENST00000673642.1:c.511T>C | ENSP00000501242.1:p.Ser171Pro | |
| ENST00000673991.1:c.712T>C | ENSP00000501033.1:p.Leu238= | |
| ENST00000226760.5:c.712T>C MANE Select | ENSP00000226760.1:p.Ser238Pro | |
| ENST00000503569.5:c.712T>C | ENSP00000423337.1:p.Ser238Pro | |
| ENST00000506362.1:c.309T>C | ||
| ENST00000507765.1:n.897T>C | ||
| NM_001145853.1:c.712T>C | NP_001139325.1:p.Ser238Pro | |
| NM_006005.3:c.712T>C MANE Select | NP_005996.2:p.Ser238Pro | |
| XM_017008586.1:c.721T>C | XP_016864075.1:p.Ser241Pro |