ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71126344T>C , CM000685.2:g.71126344T>C | GRCh38 |
| NC_000023.10:g.70346194T>C , CM000685.1:g.70346194T>C | GRCh37 |
| NC_000023.9:g.70262919T>C | NCBI36 |
| NG_012808.1:g.12789T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.2425T>C | ENSP00000333125.8:p.Ser809Pro | |
| ENST00000374102.6:c.2545T>C | ENSP00000363215.2:p.Ser849Pro | |
| ENST00000462984.2:n.390T>C | ||
| ENST00000686548.1:c.*2441T>C | ENSP00000509582.1:n.*2441T>C | |
| ENST00000687382.1:c.2545T>C | ENSP00000510724.1:p.Ser849Pro | |
| ENST00000688079.1:n.115T>C | ||
| ENST00000688663.1:c.2545T>C | ENSP00000509348.1:p.Ser849Pro | |
| ENST00000689008.1:c.*3065T>C | ENSP00000509134.1:n.*3065T>C | |
| ENST00000689768.1:n.1155T>C | ||
| ENST00000690145.1:c.2545T>C | ENSP00000508818.1:p.Ser849Pro | |
| ENST00000690242.1:c.2545T>C | ENSP00000510090.1:p.Ser849Pro | |
| ENST00000690828.1:n.2701T>C | ||
| ENST00000691113.1:c.490T>C | ENSP00000509755.1:p.Ser164Pro | |
| ENST00000691385.1:n.2009T>C | ||
| ENST00000691426.1:n.776T>C | ||
| ENST00000691468.1:c.2494T>C | ENSP00000509011.1:p.Ser832Pro | |
| ENST00000692304.1:c.2545T>C | ENSP00000508427.1:p.Ser849Pro | |
| ENST00000693324.1:c.2464T>C | ENSP00000508643.1:p.Ser822Pro | |
| ENST00000693391.1:c.490T>C | ENSP00000509563.1:p.Ser164Pro | |
| ENST00000374080.8:c.2545T>C MANE Select | ENSP00000363193.3:p.Ser849Pro | |
| ENST00000333646.10:c.2086T>C | ENSP00000333125.7:p.Ser696Pro | |
| ENST00000374080.7:c.2545T>C | ENSP00000363193.3:p.Ser849Pro | |
| ENST00000374102.5:c.2545T>C | ENSP00000363215.1:p.Ser849Pro | |
| ENST00000471663.5:n.84T>C | ||
| NM_005120.2:c.2545T>C | NP_005111.2:p.Ser849Pro | |
| XM_005262317.1:c.2545T>C | XP_005262374.1:p.Ser849Pro | |
| XM_005262319.1:c.2545T>C | XP_005262376.1:p.Ser849Pro | |
| NM_005120.3:c.2545T>C MANE Select | NP_005111.2:p.Ser849Pro |