Linked Data
ClinVar Variation Id:
907796
ClinVar RCV Id:
RCV001157894
dbSNP Id:
rs121909212
ExAC:
5:135391459 C / T
gnomAD v2:
5-135391459-C-T
gnomAD v3:
5-136055770-C-T
gnomAD v4:
5-136055770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055770C>T , CM000667.2:g.136055770C>T | GRCh38 |
| NC_000005.9:g.135391459C>T , CM000667.1:g.135391459C>T | GRCh37 |
| NC_000005.8:g.135419358C>T | NCBI36 |
| NG_012646.1:g.31876C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442011.7:c.1501C>T MANE Select | ENSP00000416330.2:p.Pro501Ser | |
| ENST00000442011.6:c.1501C>T | ENSP00000416330.2:p.Pro501Ser | |
| ENST00000506699.5:n.2018C>T | ||
| ENST00000507018.5:c.1479C>T | ||
| ENST00000509485.5:c.416C>T | ||
| ENST00000514242.5:n.272C>T | ||
| ENST00000514554.5:c.653C>T | ||
| NM_000358.2:c.1501C>T | NP_000349.1:p.Pro501Ser | |
| NM_000358.3:c.1501C>T MANE Select | NP_000349.1:p.Pro501Ser |