Linked Data
ClinVar Variation Id:
2952881
ClinVar RCV Id:
RCV003818015
dbSNP Id:
rs781389179
ExAC:
1:209968685 G / A
gnomAD v2:
1-209968685-G-A
gnomAD v3:
1-209795340-G-A
gnomAD v4:
1-209795340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209795340G>A , CM000663.2:g.209795340G>A | GRCh38 |
| NC_000001.10:g.209968685G>A , CM000663.1:g.209968685G>A | GRCh37 |
| NC_000001.9:g.208035308G>A | NCBI36 |
| NG_007081.2:g.15795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.458C>T | ENSP00000512426.1:p.Ser153Leu | |
| ENST00000696134.1:c.458C>T | ENSP00000512427.1:p.Ser153Leu | |
| ENST00000367021.8:c.458C>T MANE Select | ENSP00000355988.3:p.Ser153Leu | |
| ENST00000643798.1:c.458C>T | ENSP00000496669.1:p.Ser153Leu | |
| ENST00000367021.7:c.458C>T | ENSP00000355988.3:p.Ser153Leu | |
| ENST00000456314.1:c.458C>T | ENSP00000403855.1:p.Ser153Leu | |
| ENST00000542854.5:c.173C>T | ENSP00000440532.1:p.Ser58Leu | |
| NM_001206696.1:c.173C>T | NP_001193625.1:p.Ser58Leu | |
| NM_006147.3:c.458C>T | NP_006138.1:p.Ser153Leu | |
| NM_006147.4:c.458C>T MANE Select | NP_006138.1:p.Ser153Leu | |
| NM_001206696.2:c.173C>T | NP_001193625.1:p.Ser58Leu |