Linked Data
dbSNP Id:
rs1130496
ExAC:
7:157959895 C / T
gnomAD v2:
7-157959895-C-T
gnomAD v3:
7-158167203-C-T
gnomAD v4:
7-158167203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.158167203C>T , CM000669.2:g.158167203C>T | GRCh38 |
| NC_000007.13:g.157959895C>T , CM000669.1:g.157959895C>T | GRCh37 |
| NC_000007.12:g.157652656C>T | NCBI36 |
| NG_029966.1:g.425588G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389418.9:c.638G>A MANE Select | ENSP00000374069.4:p.Arg213His | |
| ENST00000389413.7:c.638G>A | ENSP00000374064.3:p.Arg213His | |
| ENST00000389416.8:c.587G>A | ENSP00000374067.4:p.Arg196His | |
| ENST00000389418.8:c.638G>A | ENSP00000374069.4:p.Arg213His | |
| ENST00000404321.3:c.365G>A | ENSP00000385464.3:p.Arg122His | |
| ENST00000409483.5:c.524G>A | ENSP00000387114.1:p.Arg175His | |
| NM_001308267.1:c.524G>A | NP_001295196.1:p.Arg175His | |
| NM_001308268.1:c.707G>A | NP_001295197.1:p.Arg236His | |
| NM_002847.3:c.638G>A | NP_002838.2:p.Arg213His | |
| NM_002847.4:c.638G>A | NP_002838.2:p.Arg213His | |
| NM_130842.2:c.587G>A | NP_570857.2:p.Arg196His | |
| NM_130842.3:c.587G>A | NP_570857.2:p.Arg196His | |
| NM_130843.2:c.638G>A | NP_570858.2:p.Arg213His | |
| NM_130843.3:c.638G>A | NP_570858.2:p.Arg213His | |
| XM_011516446.1:c.638G>A | XP_011514748.1:p.Arg213His | |
| XM_011516447.1:c.638G>A | XP_011514749.1:p.Arg213His | |
| XM_011516448.1:c.638G>A | XP_011514750.1:p.Arg213His | |
| XM_011516449.1:c.638G>A | XP_011514751.1:p.Arg213His | |
| XM_011516447.2:c.638G>A | XP_011514749.1:p.Arg213His | |
| XM_011516448.3:c.638G>A | XP_011514750.1:p.Arg213His | |
| XM_011516449.2:c.638G>A | XP_011514751.1:p.Arg213His | |
| XM_017012475.1:c.440G>A | XP_016867964.1:p.Arg147His | |
| XM_017012476.1:c.638G>A | XP_016867965.1:p.Arg213His | |
| NM_002847.5:c.638G>A MANE Select | NP_002838.2:p.Arg213His | |
| NM_001308267.2:c.524G>A | NP_001295196.1:p.Arg175His | |
| NM_130842.4:c.587G>A | NP_570857.2:p.Arg196His | |
| NM_130843.4:c.638G>A | NP_570858.2:p.Arg213His | |
| NM_001308268.2:c.707G>A | NP_001295197.1:p.Arg236His |