Linked Data
ClinVar Variation Id:
3094813
ClinVar RCV Id:
RCV004394150
dbSNP Id:
rs560823913
ExAC:
5:176517799 T / C
gnomAD v2:
5-176517799-T-C
gnomAD v3:
5-177090798-T-C
gnomAD v4:
5-177090798-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177090798T>C , CM000667.2:g.177090798T>C | GRCh38 |
| NC_000005.9:g.176517799T>C , CM000667.1:g.176517799T>C | GRCh37 |
| NC_000005.8:g.176450405T>C | NCBI36 |
| NG_012067.1:g.8879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.409T>C MANE Select | ENSP00000292408.4:p.Ser137Pro | |
| ENST00000292408.8:c.409T>C | ENSP00000292408.4:p.Ser137Pro | |
| ENST00000393637.5:c.409T>C | ENSP00000377254.1:p.Ser137Pro | |
| ENST00000393648.6:c.409T>C | ENSP00000377259.2:p.Ser137Pro | |
| ENST00000426612.5:n.414T>C | ||
| ENST00000430285.5:c.*273T>C | ENSP00000395164.1:n.*273T>C | |
| ENST00000502906.5:c.409T>C | ENSP00000424960.1:p.Ser137Pro | |
| ENST00000503708.5:c.409T>C | ENSP00000424905.1:p.Ser137Pro | |
| ENST00000509511.5:n.409T>C | ||
| NM_001291980.1:c.409T>C | NP_001278909.1:p.Ser137Pro | |
| NM_002011.4:c.409T>C | NP_002002.3:p.Ser137Pro | |
| NM_022963.3:c.409T>C | NP_075252.2:p.Ser137Pro | |
| NM_213647.2:c.409T>C | NP_998812.1:p.Ser137Pro | |
| XM_005265838.2:c.409T>C | XP_005265895.1:p.Ser137Pro | |
| XM_011534464.1:c.502T>C | XP_011532766.1:p.Ser168Pro | |
| XM_011534465.1:c.91T>C | XP_011532767.1:p.Ser31Pro | |
| XR_941090.1:n.454T>C | ||
| NM_001354984.1:c.409T>C | NP_001341913.1:p.Ser137Pro | |
| NM_213647.3:c.409T>C MANE Select | NP_998812.1:p.Ser137Pro | |
| NM_001291980.2:c.409T>C | NP_001278909.1:p.Ser137Pro | |
| NM_001354984.2:c.409T>C | NP_001341913.1:p.Ser137Pro | |
| NM_002011.5:c.409T>C | NP_002002.3:p.Ser137Pro |