Linked Data
ClinVar Variation Id:
1745668
ClinVar RCV Id:
RCV002338260
dbSNP Id:
rs1337921591
gnomAD v2:
7-21598438-T-G
gnomAD v4:
7-21558820-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21558820T>G , CM000669.2:g.21558820T>G | GRCh38 |
| NC_000007.13:g.21598438T>G , CM000669.1:g.21598438T>G | GRCh37 |
| NC_000007.12:g.21564963T>G | NCBI36 |
| NG_012886.2:g.20606T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.514T>G MANE Select | ENSP00000475939.1:p.Ser172Ala | |
| ENST00000328843.10:c.514T>G | ENSP00000330671.7:p.Ser172Ala | |
| ENST00000409508.7:c.514T>G | ENSP00000475939.1:p.Ser172Ala | |
| ENST00000620169.4:c.514T>G | ENSP00000481693.1:p.Ser172Ala | |
| NM_001277115.1:c.514T>G | NP_001264044.1:p.Ser172Ala | |
| NM_001277115.2:c.514T>G MANE Select | NP_001264044.1:p.Ser172Ala |