Linked Data
dbSNP Id:
rs1234376857
gnomAD v2:
1-173879023-C-A
gnomAD v3:
1-173909885-C-A
gnomAD v4:
1-173909885-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909885C>A , CM000663.2:g.173909885C>A | GRCh38 |
| NC_000001.10:g.173879023C>A , CM000663.1:g.173879023C>A | GRCh37 |
| NC_000001.9:g.172145646C>A | NCBI36 |
| NG_012462.1:g.12494G>T , LRG_577:g.12494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.820G>T MANE Select | ENSP00000356671.3:p.Ala274Ser | |
| ENST00000367698.3:c.820G>T | ENSP00000356671.3:p.Ala274Ser | |
| ENST00000487183.1:n.471G>T | ||
| ENST00000617423.4:c.559+1979G>T | ENSP00000478688.1:n.559+1979G>T | |
| NM_000488.3:c.820G>T , LRG_577t1:c.820G>T | NP_000479.1:p.Ala274Ser | |
| XM_005245198.2:c.676G>T | XP_005245255.1:p.Ala226Ser | |
| NM_001365052.1:c.676G>T | NP_001351981.1:p.Ala226Ser | |
| NM_000488.4:c.820G>T MANE Select | NP_000479.1:p.Ala274Ser | |
| NM_001365052.2:c.676G>T | NP_001351981.1:p.Ala226Ser | |
| NM_001386302.1:c.943G>T | NP_001373231.1:p.Ala315Ser | |
| NM_001386303.1:c.901G>T | NP_001373232.1:p.Ala301Ser | |
| NM_001386304.1:c.799G>T | NP_001373233.1:p.Ala267Ser | |
| NM_001386305.1:c.763G>T | NP_001373234.1:p.Ala255Ser | |
| NM_001386306.1:c.604G>T | NP_001373235.1:p.Ala202Ser |