Linked Data
ClinVar Variation Id:
217141
ClinVar RCV Id:
RCV000201204
dbSNP Id:
rs185436876
ExAC:
1:161954639 C / T
gnomAD v2:
1-161954639-C-T
gnomAD v3:
1-161984849-C-T
gnomAD v4:
1-161984849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161984849C>T , CM000663.2:g.161984849C>T | GRCh38 |
| NC_000001.10:g.161954639C>T , CM000663.1:g.161954639C>T | GRCh37 |
| NC_000001.9:g.160221263C>T | NCBI36 |
| NG_052853.1:g.44617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294794.8:c.1606G>A MANE Select | ENSP00000294794.3:p.Gly536Ser | |
| ENST00000294794.7:c.1606G>A | ENSP00000294794.3:p.Gly536Ser | |
| ENST00000367938.1:c.55G>A | ENSP00000356915.1:p.Gly19Ser | |
| ENST00000367940.2:c.1609G>A | ENSP00000356917.2:p.Gly537Ser | |
| NM_001297713.1:c.1609G>A | NP_001284642.1:p.Gly537Ser | |
| NM_015441.2:c.1606G>A | NP_056256.1:p.Gly536Ser | |
| XM_005245075.2:c.1612G>A | XP_005245132.1:p.Gly538Ser | |
| XM_011509398.1:c.886G>A | XP_011507700.1:p.Gly296Ser | |
| NM_001347700.1:c.1612G>A | NP_001334629.1:p.Gly538Ser | |
| XM_011509398.2:c.886G>A | XP_011507700.1:p.Gly296Ser | |
| NM_001297713.2:c.1609G>A | NP_001284642.1:p.Gly537Ser | |
| NM_001347700.2:c.1612G>A | NP_001334629.1:p.Gly538Ser | |
| NM_015441.3:c.1606G>A MANE Select | NP_056256.1:p.Gly536Ser |