Linked Data
dbSNP Id:
rs777208363
ExAC:
1:196965178 C / A
gnomAD v2:
1-196965178-C-A
gnomAD v4:
1-196996048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996048C>A , CM000663.2:g.196996048C>A | GRCh38 |
| NC_000001.10:g.196965178C>A , CM000663.1:g.196965178C>A | GRCh37 |
| NC_000001.9:g.195231801C>A | NCBI36 |
| NG_016365.1:g.23512C>A , LRG_227:g.23512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.562C>A | ENSP00000514393.1:p.Pro188Thr | |
| ENST00000699467.1:n.886C>A | ||
| ENST00000699468.1:c.-24-66C>A | ENSP00000514394.1:n.-24-66C>A | |
| ENST00000256785.5:c.817C>A MANE Select | ENSP00000256785.4:p.Pro273Thr | |
| ENST00000256785.4:c.817C>A | ENSP00000256785.4:p.Pro273Thr | |
| NM_030787.3:c.817C>A , LRG_227t1:c.817C>A | NP_110414.1:p.Pro273Thr | |
| XM_011510020.1:c.826C>A | XP_011508322.1:p.Pro276Thr | |
| XM_011510020.2:c.826C>A | XP_011508322.1:p.Pro276Thr | |
| NM_030787.4:c.817C>A MANE Select | NP_110414.1:p.Pro273Thr |