Linked Data
dbSNP Id:
rs758281375
ExAC:
4:6292974 G / C
gnomAD v2:
4-6292974-G-C
gnomAD v4:
4-6291247-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291247G>C , CM000666.2:g.6291247G>C | GRCh38 |
| NC_000004.11:g.6292974G>C , CM000666.1:g.6292974G>C | GRCh37 |
| NC_000004.10:g.6343875G>C | NCBI36 |
| NG_011700.1:g.26398G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.511G>C | ENSP00000507852.1:p.Asp171His | |
| ENST00000683395.1:c.501G>C | ||
| ENST00000684087.1:c.511G>C | ENSP00000506978.1:p.Asp171His | |
| ENST00000684700.1:c.511G>C | ENSP00000507806.1:p.Asp171His | |
| ENST00000506362.2:c.262G>C | ENSP00000424103.2:p.Asp88His | |
| ENST00000673642.1:c.310G>C | ENSP00000501242.1:p.Asp104His | |
| ENST00000673991.1:c.511G>C | ENSP00000501033.1:p.Asp171His | |
| ENST00000674051.1:c.385G>C | ENSP00000501083.1:p.Asp129His | |
| ENST00000226760.5:c.511G>C MANE Select | ENSP00000226760.1:p.Asp171His | |
| ENST00000503569.5:c.511G>C | ENSP00000423337.1:p.Asp171His | |
| ENST00000506362.1:c.108G>C | ||
| ENST00000507765.1:n.696G>C | ||
| NM_001145853.1:c.511G>C | NP_001139325.1:p.Asp171His | |
| NM_006005.3:c.511G>C MANE Select | NP_005996.2:p.Asp171His | |
| XM_017008586.1:c.520G>C | XP_016864075.1:p.Asp174His |