Linked Data
ClinVar Variation Id:
522258
dbSNP Id:
rs557416644
gnomAD v2:
11-68682483-C-T
gnomAD v4:
11-68915015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915015C>T , CM000673.2:g.68915015C>T | GRCh38 |
| NC_000011.9:g.68682483C>T , CM000673.1:g.68682483C>T | GRCh37 |
| NC_000011.8:g.68439059C>T | NCBI36 |
| NG_007976.1:g.16165C>T , LRG_250:g.16165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.904C>T MANE Select | ENSP00000255078.4:p.Gln302Ter | |
| ENST00000539224.2:c.1033C>T | ||
| ENST00000674955.1:c.904C>T | ENSP00000502463.1:p.Gln302Ter | |
| ENST00000675118.1:c.251C>T | ||
| ENST00000675119.1:c.193C>T | ENSP00000501861.1:p.Gln65Ter | |
| ENST00000675305.1:c.193C>T | ENSP00000502365.1:p.Gln65Ter | |
| ENST00000675464.1:c.193C>T | ENSP00000502650.1:p.Gln65Ter | |
| ENST00000675615.1:c.904C>T | ENSP00000502413.1:p.Gln302Ter | |
| ENST00000675683.1:c.291C>T | ||
| ENST00000676173.1:n.948C>T | ||
| ENST00000676228.1:c.*227C>T | ENSP00000502375.1:n.*227C>T | |
| ENST00000676239.1:n.218C>T | ||
| ENST00000255078.7:c.904C>T | ENSP00000255078.3:p.Gln302Ter | |
| NM_002180.2:c.904C>T , LRG_250t1:c.904C>T | NP_002171.2:p.Gln302Ter | |
| XM_005273974.2:c.-108C>T | XP_005274031.1:n.-108C>T | |
| XM_005273976.1:c.904C>T | XP_005274033.1:p.Gln302Ter | |
| XR_247198.1:n.1006C>T | ||
| XR_949903.1:n.1006C>T | ||
| XM_005273976.2:c.904C>T | XP_005274033.1:p.Gln302Ter | |
| XM_017017669.2:c.-108C>T | XP_016873158.1:n.-108C>T | |
| XM_017017670.2:c.-108C>T | XP_016873159.1:n.-108C>T | |
| XM_017017671.2:c.904C>T | XP_016873160.1:p.Gln302Ter | |
| XR_949903.3:n.1002C>T | ||
| NM_002180.3:c.904C>T MANE Select | NP_002171.2:p.Gln302Ter |