Linked Data
ClinVar Variation Id:
1576061
ClinVar RCV Id:
RCV002085194
dbSNP Id:
rs773792958
ExAC:
1:173873144 C / T
gnomAD v2:
1-173873144-C-T
gnomAD v3:
1-173904006-C-T
gnomAD v4:
1-173904006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904006C>T , CM000663.2:g.173904006C>T | GRCh38 |
| NC_000001.10:g.173873144C>T , CM000663.1:g.173873144C>T | GRCh37 |
| NC_000001.9:g.172139767C>T | NCBI36 |
| NG_012462.1:g.18373G>A , LRG_577:g.18373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1278G>A MANE Select | ENSP00000356671.3:p.Ser426= | |
| ENST00000367698.3:c.1278G>A | ENSP00000356671.3:p.Ser426= | |
| ENST00000617423.4:c.663G>A | ENSP00000478688.1:p.Ser221= | |
| NM_000488.3:c.1278G>A , LRG_577t1:c.1278G>A | NP_000479.1:p.Ser426= | |
| XM_005245198.2:c.1134G>A | XP_005245255.1:p.Ser378= | |
| NM_001365052.1:c.1134G>A | NP_001351981.1:p.Ser378= | |
| NM_000488.4:c.1278G>A MANE Select | NP_000479.1:p.Ser426= | |
| NM_001365052.2:c.1134G>A | NP_001351981.1:p.Ser378= | |
| NM_001386302.1:c.1401G>A | NP_001373231.1:p.Ser467= | |
| NM_001386303.1:c.1359G>A | NP_001373232.1:p.Ser453= | |
| NM_001386304.1:c.1257G>A | NP_001373233.1:p.Ser419= | |
| NM_001386305.1:c.1221G>A | NP_001373234.1:p.Ser407= | |
| NM_001386306.1:c.1062G>A | NP_001373235.1:p.Ser354= |