Linked Data
ClinVar Variation Id:
1403128
ClinVar RCV Id:
RCV001908898
dbSNP Id:
rs121909550
gnomAD v3:
1-173904007-G-C
gnomAD v4:
1-173904007-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904007G>C , CM000663.2:g.173904007G>C | GRCh38 |
| NC_000001.10:g.173873145G>C , CM000663.1:g.173873145G>C | GRCh37 |
| NC_000001.9:g.172139768G>C | NCBI36 |
| NG_012462.1:g.18372C>G , LRG_577:g.18372C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1277C>G MANE Select | ENSP00000356671.3:p.Ser426Trp | |
| ENST00000367698.3:c.1277C>G | ENSP00000356671.3:p.Ser426Trp | |
| ENST00000617423.4:c.662C>G | ENSP00000478688.1:p.Ser221Trp | |
| NM_000488.3:c.1277C>G , LRG_577t1:c.1277C>G | NP_000479.1:p.Ser426Trp | |
| XM_005245198.2:c.1133C>G | XP_005245255.1:p.Ser378Trp | |
| NM_001365052.1:c.1133C>G | NP_001351981.1:p.Ser378Trp | |
| NM_000488.4:c.1277C>G MANE Select | NP_000479.1:p.Ser426Trp | |
| NM_001365052.2:c.1133C>G | NP_001351981.1:p.Ser378Trp | |
| NM_001386302.1:c.1400C>G | NP_001373231.1:p.Ser467Trp | |
| NM_001386303.1:c.1358C>G | NP_001373232.1:p.Ser453Trp | |
| NM_001386304.1:c.1256C>G | NP_001373233.1:p.Ser419Trp | |
| NM_001386305.1:c.1220C>G | NP_001373234.1:p.Ser407Trp | |
| NM_001386306.1:c.1061C>G | NP_001373235.1:p.Ser354Trp |