Linked Data
ClinVar Variation Id:
1010931
ClinVar RCV Id:
RCV001308651
dbSNP Id:
rs2062428888
gnomAD v3:
X-48688803-C-T
gnomAD v4:
X-48688803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688803C>T , CM000685.2:g.48688803C>T | GRCh38 |
| NC_000023.10:g.48547192C>T , CM000685.1:g.48547192C>T | GRCh37 |
| NC_000023.9:g.48432136C>T | NCBI36 |
| NG_007877.1:g.10007C>T , LRG_125:g.10007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.319C>T | ||
| ENST00000698625.1:c.1075C>T | ENSP00000513844.1:p.Pro359Ser | |
| ENST00000698626.1:c.1075C>T | ENSP00000513845.1:p.Pro359Ser | |
| ENST00000698635.1:c.1075C>T | ENSP00000513850.1:p.Pro359Ser | |
| ENST00000376701.5:c.1075C>T MANE Select | ENSP00000365891.4:p.Pro359Ser | |
| ENST00000376701.4:c.1075C>T | ENSP00000365891.4:p.Pro359Ser | |
| ENST00000474174.1:n.319C>T | ||
| NM_000377.2:c.1075C>T , LRG_125t1:c.1075C>T | NP_000368.1:p.Pro359Ser | |
| XM_011543977.1:c.932-13C>T | XP_011542279.1:n.932-13C>T | |
| XM_011543977.2:c.932-13C>T | XP_011542279.1:n.932-13C>T | |
| XM_017029786.1:c.1075C>T | XP_016885275.1:p.Pro359Ser | |
| NM_000377.3:c.1075C>T MANE Select | NP_000368.1:p.Pro359Ser |