Linked Data
ClinVar Variation Id:
1150741
ClinVar RCV Id:
RCV001491457
dbSNP Id:
rs761180254
ExAC:
1:172634934 C / T
gnomAD v2:
1-172634934-C-T
gnomAD v3:
1-172665794-C-T
gnomAD v4:
1-172665794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665794C>T , CM000663.2:g.172665794C>T | GRCh38 |
| NC_000001.10:g.172634934C>T , CM000663.1:g.172634934C>T | GRCh37 |
| NC_000001.9:g.170901557C>T | NCBI36 |
| NG_007269.1:g.11750C>T , LRG_58:g.11750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.624C>T MANE Select | ENSP00000356694.2:p.Ser208= | |
| ENST00000340030.4:c.*194C>T | ENSP00000344739.3:n.*194C>T | |
| ENST00000367721.2:c.624C>T | ENSP00000356694.2:p.Ser208= | |
| NM_000639.2:c.624C>T | NP_000630.1:p.Ser208= | |
| NM_001302746.1:c.*194C>T | NP_001289675.1:n.*194C>T | |
| NM_000639.3:c.624C>T MANE Select | NP_000630.1:p.Ser208= | |
| NM_001302746.2:c.*194C>T | NP_001289675.1:n.*194C>T |