Linked Data
ClinVar Variation Id:
297885
dbSNP Id:
rs11208257
ExAC:
1:64114301 T / C
gnomAD v2:
1-64114301-T-C
gnomAD v3:
1-63648630-T-C
gnomAD v4:
1-63648630-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63648630T>C , CM000663.2:g.63648630T>C | GRCh38 |
| NC_000001.10:g.64114301T>C , CM000663.1:g.64114301T>C | GRCh37 |
| NC_000001.9:g.63886889T>C | NCBI36 |
| NG_016966.1:g.60355T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371084.8:c.1258T>C MANE Select | ENSP00000360125.3:p.Tyr420His | |
| ENST00000650546.1:c.1258T>C | ENSP00000497812.1:p.Tyr420His | |
| ENST00000371083.4:c.1312T>C | ENSP00000360124.4:p.Tyr438His | |
| ENST00000371084.7:c.1258T>C | ENSP00000360125.3:p.Tyr420His | |
| ENST00000540265.5:c.667T>C | ENSP00000443449.1:p.Tyr223His | |
| NM_001172818.1:c.1312T>C | NP_001166289.1:p.Tyr438His | |
| NM_001172819.1:c.667T>C | NP_001166290.1:p.Tyr223His | |
| NM_002633.2:c.1258T>C | NP_002624.2:p.Tyr420His | |
| NM_002633.3:c.1258T>C MANE Select | NP_002624.2:p.Tyr420His | |
| NM_001172819.2:c.667T>C | NP_001166290.1:p.Tyr223His |