Linked Data
dbSNP Id:
rs17037102
ExAC:
4:107845794 C / T
gnomAD v2:
4-107845794-C-T
gnomAD v3:
4-106924637-C-T
gnomAD v4:
4-106924637-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106924637C>T , CM000666.2:g.106924637C>T | GRCh38 |
| NC_000004.11:g.107845794C>T , CM000666.1:g.107845794C>T | GRCh37 |
| NC_000004.10:g.108065243C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285311.8:c.437G>A MANE Select | ENSP00000285311.3:p.Arg146Gln | |
| ENST00000285311.7:c.437G>A | ENSP00000285311.3:p.Arg146Gln | |
| ENST00000510463.1:c.299G>A | ENSP00000423797.1:p.Arg100Gln | |
| ENST00000510534.1:n.658G>A | ||
| ENST00000513208.5:c.137G>A | ENSP00000421255.1:p.Arg46Gln | |
| NM_014421.2:c.437G>A | NP_055236.1:p.Arg146Gln | |
| NM_014421.3:c.437G>A MANE Select | NP_055236.1:p.Arg146Gln |