Linked Data
ClinVar Variation Id:
521206
dbSNP Id:
rs1324667543
gnomAD v2:
11-68675795-C-T
gnomAD v3:
11-68908327-C-T
gnomAD v4:
11-68908327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908327C>T , CM000673.2:g.68908327C>T | GRCh38 |
| NC_000011.9:g.68675795C>T , CM000673.1:g.68675795C>T | GRCh37 |
| NC_000011.8:g.68432371C>T | NCBI36 |
| NG_007976.1:g.9477C>T , LRG_250:g.9477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.439C>T MANE Select | ENSP00000255078.4:p.Arg147Ter | |
| ENST00000539224.2:c.402C>T | ||
| ENST00000674583.1:c.402C>T | ||
| ENST00000674597.1:c.250C>T | ||
| ENST00000674955.1:c.439C>T | ENSP00000502463.1:p.Arg147Ter | |
| ENST00000675142.1:n.402C>T | ||
| ENST00000675469.1:c.315C>T | ||
| ENST00000675615.1:c.439C>T | ENSP00000502413.1:p.Arg147Ter | |
| ENST00000675674.1:n.402C>T | ||
| ENST00000675873.1:c.402C>T | ||
| ENST00000676173.1:n.483C>T | ||
| ENST00000676228.1:c.439C>T | ENSP00000502375.1:p.Arg147Ter | |
| ENST00000255078.7:c.439C>T | ENSP00000255078.3:p.Arg147Ter | |
| ENST00000539224.1:c.439C>T | ENSP00000440465.1:p.Arg147Ter | |
| ENST00000544541.1:c.*179C>T | ENSP00000443343.1:n.*179C>T | |
| NM_002180.2:c.439C>T , LRG_250t1:c.439C>T | NP_002171.2:p.Arg147Ter | |
| XM_005273974.2:c.-573C>T | XP_005274031.1:n.-573C>T | |
| XM_005273976.1:c.439C>T | XP_005274033.1:p.Arg147Ter | |
| XR_247198.1:n.541C>T | ||
| XR_949903.1:n.541C>T | ||
| XM_005273976.2:c.439C>T | XP_005274033.1:p.Arg147Ter | |
| XM_017017669.2:c.-475C>T | XP_016873158.1:n.-475C>T | |
| XM_017017671.2:c.439C>T | XP_016873160.1:p.Arg147Ter | |
| XR_949903.3:n.537C>T | ||
| NM_002180.3:c.439C>T MANE Select | NP_002171.2:p.Arg147Ter |