Linked Data
dbSNP Id:
rs1558234732
gnomAD v2:
1-172633254-C-T
gnomAD v3:
1-172664114-C-T
gnomAD v4:
1-172664114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172664114C>T , CM000663.2:g.172664114C>T | GRCh38 |
| NC_000001.10:g.172633254C>T , CM000663.1:g.172633254C>T | GRCh37 |
| NC_000001.9:g.170899877C>T | NCBI36 |
| NG_007269.1:g.10070C>T , LRG_58:g.10070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.395-220C>T MANE Select | ENSP00000356694.2:n.395-220C>T | |
| ENST00000340030.4:c.349-220C>T | ENSP00000344739.3:n.349-220C>T | |
| ENST00000367721.2:c.395-220C>T | ENSP00000356694.2:n.395-220C>T | |
| NM_000639.2:c.395-220C>T | NP_000630.1:n.395-220C>T | |
| NM_001302746.1:c.349-220C>T | NP_001289675.1:n.349-220C>T | |
| NM_000639.3:c.395-220C>T MANE Select | NP_000630.1:n.395-220C>T | |
| NM_001302746.2:c.349-220C>T | NP_001289675.1:n.349-220C>T |