Linked Data
dbSNP Id:
rs75967634
ExAC:
4:100229016 C / T
gnomAD v2:
4-100229016-C-T
gnomAD v3:
4-99307859-C-T
gnomAD v4:
4-99307859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307859C>T , CM000666.2:g.99307859C>T | GRCh38 |
| NC_000004.11:g.100229016C>T , CM000666.1:g.100229016C>T | GRCh37 |
| NC_000004.10:g.100448039C>T | NCBI36 |
| NG_011435.1:g.18557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.1109G>A MANE Select | ENSP00000306606.8:p.Arg370His | |
| ENST00000639454.1:c.1109G>A | ENSP00000491622.1:p.Arg370His | |
| ENST00000305046.12:c.1109G>A | ENSP00000306606.8:p.Arg370His | |
| ENST00000506651.5:c.989G>A | ENSP00000425998.2:p.Arg330His | |
| ENST00000515694.4:n.3204G>A | ||
| ENST00000625860.2:c.989G>A | ENSP00000486614.1:p.Arg330His | |
| NM_000668.5:c.1109G>A | NP_000659.2:p.Arg370His | |
| NM_001286650.1:c.989G>A | NP_001273579.1:p.Arg330His | |
| NM_000668.6:c.1109G>A MANE Select | NP_000659.2:p.Arg370His | |
| NM_001286650.2:c.989G>A | NP_001273579.1:p.Arg330His |