Linked Data
dbSNP Id:
rs2217332
ExAC:
16:56969148 G / A
gnomAD v2:
16-56969148-G-A
gnomAD v3:
16-56935236-G-A
gnomAD v4:
16-56935236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56935236G>A , CM000678.2:g.56935236G>A | GRCh38 |
| NC_000016.9:g.56969148G>A , CM000678.1:g.56969148G>A | GRCh37 |
| NC_000016.8:g.55526649G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439977.7:c.149G>A MANE Select | ENSP00000409555.2:p.Arg50His | |
| ENST00000300302.9:c.149G>A | ENSP00000300302.5:p.Arg50His | |
| ENST00000344114.8:c.149G>A | ENSP00000340931.4:p.Arg50His | |
| ENST00000379792.6:c.149G>A | ENSP00000369118.2:p.Arg50His | |
| ENST00000439977.6:c.149G>A | ENSP00000409555.2:p.Arg50His | |
| ENST00000562914.1:n.252G>A | ||
| ENST00000563343.5:c.23G>A | ENSP00000455094.1:p.Arg8His | |
| ENST00000565966.5:c.148-6G>A | ENSP00000456384.1:n.148-6G>A | |
| ENST00000566550.1:n.272G>A | ||
| ENST00000568676.5:n.247G>A | ||
| ENST00000569429.5:c.23G>A | ENSP00000457321.1:p.Arg8His | |
| ENST00000569569.5:n.247G>A | ||
| ENST00000570273.5:n.246G>A | ||
| NM_001010989.2:c.149G>A | NP_001010989.1:p.Arg50His | |
| NM_001272103.1:c.149G>A | NP_001259032.1:p.Arg50His | |
| NM_014685.3:c.149G>A | NP_055500.1:p.Arg50His | |
| XM_006721352.2:c.332G>A | XP_006721415.1:p.Arg111His | |
| NM_014685.4:c.149G>A MANE Select | NP_055500.1:p.Arg50His | |
| NM_001010989.3:c.149G>A | NP_001010989.1:p.Arg50His | |
| NM_001272103.2:c.149G>A | NP_001259032.1:p.Arg50His |