Linked Data
ClinVar Variation Id:
1117256
ClinVar RCV Id:
RCV001445924
dbSNP Id:
rs779693521
ExAC:
8:38002749 G / A
gnomAD v2:
8-38002749-G-A
gnomAD v3:
8-38145231-G-A
gnomAD v4:
8-38145231-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145231G>A , CM000670.2:g.38145231G>A | GRCh38 |
| NC_000008.10:g.38002749G>A , CM000670.1:g.38002749G>A | GRCh37 |
| NC_000008.9:g.38121906G>A | NCBI36 |
| NG_011827.1:g.10852C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.735C>T MANE Select | ENSP00000276449.3:p.Ile245= | |
| ENST00000276449.8:c.735C>T | ENSP00000276449.3:p.Ile245= | |
| ENST00000520114.1:n.1869C>T | ||
| ENST00000522050.1:c.586+732C>T | ||
| NM_000349.2:c.735C>T | NP_000340.2:p.Ile245= | |
| XM_006716392.1:c.650+732C>T | XP_006716455.1:n.650+732C>T | |
| NM_000349.3:c.735C>T MANE Select | NP_000340.2:p.Ile245= |