Linked Data
ClinVar Variation Id:
2937056
ClinVar RCV Id:
RCV003791246
dbSNP Id:
rs1292892436
gnomAD v2:
5-140953349-G-A
gnomAD v4:
5-141573782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141573782G>A , CM000667.2:g.141573782G>A | GRCh38 |
| NC_000005.9:g.140953349G>A , CM000667.1:g.140953349G>A | GRCh37 |
| NC_000005.8:g.140933533G>A | NCBI36 |
| NG_011594.1:g.50274C>T | |
| NG_011594.2:g.50274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.2068C>T MANE Select | ENSP00000373706.4:p.Pro690Ser | |
| ENST00000647433.1:c.2068C>T | ENSP00000494675.1:p.Pro690Ser | |
| ENST00000253811.10:c.1936C>T | ENSP00000253811.7:p.Pro646Ser | |
| ENST00000389054.7:c.2068C>T | ENSP00000373706.4:p.Pro690Ser | |
| ENST00000389057.9:c.2041C>T | ENSP00000373709.6:p.Pro681Ser | |
| ENST00000398557.8:c.2068C>T | ENSP00000381565.5:p.Pro690Ser | |
| ENST00000518047.5:c.2041C>T | ENSP00000428268.2:p.Pro681Ser | |
| NM_001079812.2:c.2041C>T | NP_001073280.1:p.Pro681Ser | |
| NM_001314007.1:c.2068C>T | NP_001300936.1:p.Pro690Ser | |
| NM_005219.4:c.2068C>T | NP_005210.3:p.Pro690Ser | |
| XM_011537572.1:c.2032C>T | XP_011535874.1:p.Pro678Ser | |
| XM_011537573.1:c.2002C>T | XP_011535875.1:p.Pro668Ser | |
| XM_024454384.1:c.2068C>T | XP_024310152.1:p.Pro690Ser | |
| XM_024454385.1:c.2041C>T | XP_024310153.1:p.Pro681Ser | |
| XM_024454386.1:c.2032C>T | XP_024310154.1:p.Pro678Ser | |
| XM_024454387.1:c.2002C>T | XP_024310155.1:p.Pro668Ser | |
| NM_005219.5:c.2068C>T MANE Select | NP_005210.3:p.Pro690Ser | |
| NM_001079812.3:c.2041C>T | NP_001073280.1:p.Pro681Ser | |
| NM_001314007.2:c.2068C>T | NP_001300936.1:p.Pro690Ser |