Linked Data
dbSNP Id:
rs780363937
ExAC:
8:119945267 G / T
gnomAD v2:
8-119945267-G-T
gnomAD v4:
8-118933028-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118933028G>T , CM000670.2:g.118933028G>T | GRCh38 |
| NC_000008.10:g.119945267G>T , CM000670.1:g.119945267G>T | GRCh37 |
| NC_000008.9:g.120014448G>T | NCBI36 |
| NG_012202.1:g.24117C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.303C>A MANE Select | ENSP00000297350.4:p.His101Gln | |
| ENST00000297350.8:c.303C>A | ENSP00000297350.4:p.His101Gln | |
| ENST00000517352.1:c.303C>A | ENSP00000427924.1:p.His101Gln | |
| NM_002546.3:c.303C>A | NP_002537.3:p.His101Gln | |
| NM_002546.4:c.303C>A MANE Select | NP_002537.3:p.His101Gln |