Linked Data
ClinVar Variation Id:
427032
ClinVar RCV Id:
RCV000994694
dbSNP Id:
rs1085307912
gnomAD v2:
11-86017488-C-T
gnomAD v4:
11-86306446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86306446C>T , CM000673.2:g.86306446C>T | GRCh38 |
| NC_000011.9:g.86017488C>T , CM000673.1:g.86017488C>T | GRCh37 |
| NC_000011.8:g.85695136C>T | NCBI36 |
| NG_046865.1:g.9236C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278483.8:c.232C>T MANE Select | ENSP00000278483.3:p.Pro78Ser | |
| ENST00000278483.7:c.232C>T | ENSP00000278483.3:p.Pro78Ser | |
| ENST00000528004.5:c.232C>T | ENSP00000433815.1:p.Pro78Ser | |
| ENST00000530208.1:n.307C>T | ||
| ENST00000531485.5:n.236+3968C>T | ||
| ENST00000532270.5:n.571C>T | ||
| ENST00000533986.5:c.232C>T | ENSP00000432699.1:p.Pro78Ser | |
| ENST00000618164.1:c.34C>T | ENSP00000482151.1:p.Pro12Ser | |
| NM_016401.3:c.232C>T | NP_057485.2:p.Pro78Ser | |
| NR_024596.1:n.307C>T | ||
| NR_024597.1:n.268+3968C>T | ||
| NR_024598.1:n.268+3968C>T | ||
| XM_011545097.1:c.115C>T | XP_011543399.1:p.Pro39Ser | |
| XR_949963.1:n.455C>T | ||
| NM_001322404.1:c.232C>T | NP_001309333.1:p.Pro78Ser | |
| NM_001322407.1:c.115C>T | NP_001309336.1:p.Pro39Ser | |
| NM_001322409.1:c.115C>T | NP_001309338.1:p.Pro39Ser | |
| NR_136324.1:n.454C>T | ||
| XM_017017914.2:c.232C>T | XP_016873403.1:p.Pro78Ser | |
| XM_017017915.1:c.115C>T | XP_016873404.1:p.Pro39Ser | |
| XR_001747904.2:n.441C>T | ||
| XR_949963.3:n.441C>T | ||
| NM_016401.4:c.232C>T MANE Select | NP_057485.2:p.Pro78Ser | |
| NM_001322404.2:c.232C>T | NP_001309333.1:p.Pro78Ser | |
| NM_001322407.2:c.115C>T | NP_001309336.1:p.Pro39Ser | |
| NM_001322409.2:c.115C>T | NP_001309338.1:p.Pro39Ser | |
| NR_024597.2:n.239+3968C>T | ||
| NR_024598.2:n.239+3968C>T | ||
| NR_136324.2:n.441C>T |