Linked Data
dbSNP Id:
rs750251474
ExAC:
6:144507997 G / A
gnomAD v2:
6-144507997-G-A
gnomAD v4:
6-144186860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186860G>A , CM000668.2:g.144186860G>A | GRCh38 |
| NC_000006.11:g.144507997G>A , CM000668.1:g.144507997G>A | GRCh37 |
| NC_000006.10:g.144549690G>A | NCBI36 |
| NG_007613.1:g.41344G>A , LRG_113:g.41344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698355.1:c.233G>A | ENSP00000513678.1:p.Arg78His | |
| ENST00000698356.1:c.233G>A | ENSP00000513679.1:p.Arg78His | |
| ENST00000698357.1:c.233G>A | ENSP00000513680.1:p.Arg78His | |
| ENST00000367568.5:c.233G>A MANE Select | ENSP00000356540.4:p.Arg78His | |
| ENST00000367568.4:c.233G>A | ENSP00000356540.4:p.Arg78His | |
| NM_003764.3:c.233G>A , LRG_113t1:c.233G>A | NP_003755.2:p.Arg78His | |
| XM_011536213.1:c.311G>A | XP_011534515.1:p.Arg104His | |
| XM_011536214.1:c.233G>A | XP_011534516.1:p.Arg78His | |
| XM_011536215.1:c.233G>A | XP_011534517.1:p.Arg78His | |
| XM_011536216.1:c.233G>A | XP_011534518.1:p.Arg78His | |
| XM_011536217.1:c.233G>A | XP_011534519.1:p.Arg78His | |
| XM_011536218.1:c.233G>A | XP_011534520.1:p.Arg78His | |
| XM_011536213.2:c.311G>A | XP_011534515.1:p.Arg104His | |
| XM_011536214.2:c.233G>A | XP_011534516.1:p.Arg78His | |
| XM_011536217.2:c.233G>A | XP_011534519.1:p.Arg78His | |
| XM_011536218.2:c.233G>A | XP_011534520.1:p.Arg78His | |
| XM_017011400.1:c.233G>A | XP_016866889.1:p.Arg78His | |
| NM_003764.4:c.233G>A MANE Select | NP_003755.2:p.Arg78His |