Linked Data
ClinVar Variation Id:
2187502
dbSNP Id:
rs144349742
ExAC:
4:178359978 T / C
gnomAD v2:
4-178359978-T-C
gnomAD v3:
4-177438824-T-C
gnomAD v4:
4-177438824-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438824T>C , CM000666.2:g.177438824T>C | GRCh38 |
| NC_000004.11:g.178359978T>C , CM000666.1:g.178359978T>C | GRCh37 |
| NC_000004.10:g.178596972T>C | NCBI36 |
| NG_011845.2:g.8680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.428A>G MANE Select | ENSP00000264595.2:p.Asn143Ser | |
| ENST00000264595.6:c.428A>G | ENSP00000264595.2:p.Asn143Ser | |
| ENST00000502310.5:c.83A>G | ENSP00000423798.1:p.Asn28Ser | |
| ENST00000506853.5:n.462A>G | ||
| ENST00000510635.1:c.124A>G | ||
| ENST00000510955.5:n.349A>G | ||
| NM_000027.3:c.428A>G | NP_000018.2:p.Asn143Ser | |
| NM_001171988.1:c.428A>G | NP_001165459.1:p.Asn143Ser | |
| NR_033655.1:n.556A>G | ||
| XM_006714123.2:c.428A>G | XP_006714186.1:p.Asn143Ser | |
| XR_001741155.2:n.522A>G | ||
| NM_000027.4:c.428A>G MANE Select | NP_000018.2:p.Asn143Ser | |
| NM_001171988.2:c.428A>G | NP_001165459.1:p.Asn143Ser | |
| NR_033655.2:n.490A>G |